Pub Date : 2024-02-06eCollection Date: 2024-01-01DOI: 10.1155/2024/8873822
Eleanor Tung-Hahn, Ghassan El-Haddad, Jonathan Strosberg
Neuroendocrine neoplasms (NENs) encompass a diverse range of biologically and behaviorally distinct epithelial malignancies that derive from neuroendocrine cells. These neoplasms are able to secrete a variety of bioactive amines or peptide hormones. The majority of NENs are well-differentiated and are defined as neuroendocrine tumors (NETs). While NETs are known to frequently metastasize to lymph nodes, liver, and lungs, spread to the skin is extremely rare and is often a late finding. Because cutaneous metastasis from a visceral site represents distant tumor dissemination, prompt histologic diagnosis is critical in terms of selecting further treatment options and ultimately impacts subsequent prognosis. This report presents a man with painful cutaneous NET metastases initially on the face then scalp. He had a prior history of longstanding and progressive stage IV visceral disease. Multimodal therapy with initial surgical resection of the larger facial lesion and radionuclide infusion therapy was undertaken. Excision fully removed the temple lesion and resolved pain. Peptide receptor radionuclide therapy (PRRT) with 177Lu-DOTATATE, a radiolabeled somatostatin analog that targets somatostatin receptors on NETs, was given along with maintenance lanreotide therapy, which resolved the scalp lesion, prevented recurrence of prior lesions and development of new cutaneous metastases, and controlled his visceral disease. PRRT has not been previously described in the management of cutaneous NET metastases. Due to the rare nature of cutaneous NET metastases, there is no consensus regarding optimal management. As such, we propose novel multimodal therapy involving excision and targeted radionuclide therapy as a possible effective option.
神经内分泌肿瘤(NENs)包括各种不同的生物和行为上独特的上皮恶性肿瘤,它们都来自神经内分泌细胞。这些肿瘤能够分泌多种生物活性胺或肽类激素。大多数神经内分泌瘤分化良好,被定义为神经内分泌瘤(NET)。众所周知,NET 常常会转移到淋巴结、肝脏和肺部,但转移到皮肤的情况极为罕见,而且往往是晚期才发现。由于内脏部位的皮肤转移代表着肿瘤的远处播散,因此及时的组织学诊断对于选择进一步的治疗方案至关重要,并最终影响后续的预后。本报告介绍了一名男性患者,他患有疼痛性皮肤 NET 转移瘤,最初出现在面部,后来转移到头皮。他曾有长期和进展性内脏疾病 IV 期病史。患者接受了多模式治疗,最初通过手术切除了面部较大的病灶,并进行了放射性核素输注治疗。切除手术完全清除了太阳穴病灶,并缓解了疼痛。177Lu-DOTATATE是一种放射性标记的体生长抑素类似物,可靶向NET上的体生长抑素受体,患者在接受兰瑞奥肽维持治疗的同时接受了肽受体放射性核素治疗(PRRT),头皮病变得到了根治,防止了之前病变的复发和新的皮肤转移,内脏疾病也得到了控制。在治疗皮肤NET转移方面,PRRT以前从未有过描述。由于皮肤 NET 转移瘤的罕见性,目前尚未就最佳治疗方法达成共识。因此,我们提出了新颖的多模式疗法,包括切除术和靶向放射性核素疗法,作为一种可能的有效选择。
{"title":"Cutaneous Neuroendocrine Metastases of Visceral Origin Responsive to Surgical Resection and Targeted Radionuclide Therapy.","authors":"Eleanor Tung-Hahn, Ghassan El-Haddad, Jonathan Strosberg","doi":"10.1155/2024/8873822","DOIUrl":"10.1155/2024/8873822","url":null,"abstract":"<p><p>Neuroendocrine neoplasms (NENs) encompass a diverse range of biologically and behaviorally distinct epithelial malignancies that derive from neuroendocrine cells. These neoplasms are able to secrete a variety of bioactive amines or peptide hormones. The majority of NENs are well-differentiated and are defined as neuroendocrine tumors (NETs). While NETs are known to frequently metastasize to lymph nodes, liver, and lungs, spread to the skin is extremely rare and is often a late finding. Because cutaneous metastasis from a visceral site represents distant tumor dissemination, prompt histologic diagnosis is critical in terms of selecting further treatment options and ultimately impacts subsequent prognosis. This report presents a man with painful cutaneous NET metastases initially on the face then scalp. He had a prior history of longstanding and progressive stage IV visceral disease. Multimodal therapy with initial surgical resection of the larger facial lesion and radionuclide infusion therapy was undertaken. Excision fully removed the temple lesion and resolved pain. Peptide receptor radionuclide therapy (PRRT) with <sup>177</sup>Lu-DOTATATE, a radiolabeled somatostatin analog that targets somatostatin receptors on NETs, was given along with maintenance lanreotide therapy, which resolved the scalp lesion, prevented recurrence of prior lesions and development of new cutaneous metastases, and controlled his visceral disease. PRRT has not been previously described in the management of cutaneous NET metastases. Due to the rare nature of cutaneous NET metastases, there is no consensus regarding optimal management. As such, we propose novel multimodal therapy involving excision and targeted radionuclide therapy as a possible effective option.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2024 ","pages":"8873822"},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10864049/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139729089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-16eCollection Date: 2024-01-01DOI: 10.1155/2024/7951391
Sara Ibrahim-Shaikh, Noah Shaikh, Nour Daboul, Esra Alshaikhnassir, Maria Hafez, Monika E Freiser
Dermal metastasis is a rare manifestation of visceral disease, and esophageal adenocarcinomas represent around only 1% of primaries that present with cutaneous metastasis. In this case, we discuss a patient who presented with a painless submental mass and extensive right neck cutaneous induration and erythema. Core needle biopsy demonstrated poorly differentiated adenocarcinoma. Blood testing also demonstrated elevated carbohydrate antigen 19-9, carcinoembryonic antigen, and alkaline phosphatase. PET/CT followed by esophagoscopy led to the diagnosis of esophageal signet-cell adenocarcinoma primary with isolated dermal metastasis. The patient was started on palliative radiotherapy and passed away two months later from a suspected thoracic fistula and hydropneumothorax.
{"title":"Metastatic Esophageal Adenocarcinoma Presenting as Neck Dermal Metastasis.","authors":"Sara Ibrahim-Shaikh, Noah Shaikh, Nour Daboul, Esra Alshaikhnassir, Maria Hafez, Monika E Freiser","doi":"10.1155/2024/7951391","DOIUrl":"10.1155/2024/7951391","url":null,"abstract":"<p><p>Dermal metastasis is a rare manifestation of visceral disease, and esophageal adenocarcinomas represent around only 1% of primaries that present with cutaneous metastasis. In this case, we discuss a patient who presented with a painless submental mass and extensive right neck cutaneous induration and erythema. Core needle biopsy demonstrated poorly differentiated adenocarcinoma. Blood testing also demonstrated elevated carbohydrate antigen 19-9, carcinoembryonic antigen, and alkaline phosphatase. PET/CT followed by esophagoscopy led to the diagnosis of esophageal signet-cell adenocarcinoma primary with isolated dermal metastasis. The patient was started on palliative radiotherapy and passed away two months later from a suspected thoracic fistula and hydropneumothorax.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2024 ","pages":"7951391"},"PeriodicalIF":0.0,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10805548/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139541935","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Harlequin ichthyosis (HI) is a genetically inherited epidermal disorder due to the mutation of the ABCA12 gene, which is responsible for lipid transportation, and presents with large keratinised scales characterised by deep erythematous fissures, with ectropion and eclabium. A moderate number of cases and a high mortality rate have been recorded. In this case report, a pregnant lady gave birth to a 33-week-old premature foetus with characteristic symptoms of HI. After admitting him to the NICU, a multidisciplinary treatment approach was conducted with paediatric dermatologists, ophthalmologists, urologists, and dieticians. The prognosis is positive, with desquamation of the hyperkeratotic plate revealing an erythematous and shiny skin. A short literature review on HI characteristics, diagnostic aids, and management has also been added.
Harlequin 鱼鳞病(HI)是一种遗传性表皮疾病,是由于负责脂质运输的 ABCA12 基因发生突变而引起的。该病的病例数量不多,死亡率较高。在本病例报告中,一名孕妇产下了一个 33 周大的早产儿,并伴有 HI 的特征性症状。将其送入新生儿重症监护室后,儿科皮肤科医生、眼科医生、泌尿科医生和营养师对其进行了多学科治疗。预后良好,角化过度板块脱屑,皮肤红斑发亮。此外,还补充了有关 HI 特征、诊断辅助工具和治疗方法的简短文献综述。
{"title":"Retinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review.","authors":"Emad Bahashwan, Jaber Alfaifi, Sahar Elmaghawri Mohamed Moursi, Youssef Elbayoumi Soliman","doi":"10.1155/2024/8729318","DOIUrl":"10.1155/2024/8729318","url":null,"abstract":"<p><p>Harlequin ichthyosis (HI) is a genetically inherited epidermal disorder due to the mutation of the ABCA12 gene, which is responsible for lipid transportation, and presents with large keratinised scales characterised by deep erythematous fissures, with ectropion and eclabium. A moderate number of cases and a high mortality rate have been recorded. In this case report, a pregnant lady gave birth to a 33-week-old premature foetus with characteristic symptoms of HI. After admitting him to the NICU, a multidisciplinary treatment approach was conducted with paediatric dermatologists, ophthalmologists, urologists, and dieticians. The prognosis is positive, with desquamation of the hyperkeratotic plate revealing an erythematous and shiny skin. A short literature review on HI characteristics, diagnostic aids, and management has also been added.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2024 ","pages":"8729318"},"PeriodicalIF":0.0,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10798836/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139512027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bullous hemorrhagic dermatosis is an adverse reaction occurring within 5 to 21 days after anticoagulation; the diagnosis is to be evoked in the presence of hemorrhagic bullous lesions at a distance from the injection site in the days following the introduction of anticoagulant; this is a diagnosis of exclusion. It is a rare pathology that mainly affects the elderly. A 54-year-old man presented with bullous hemorrhagic lesions on the left upper limb starting at the 4th day after enoxaparin injection, diagnosed as a bullous hemorrhagic dermatosis induced by enoxaparin. We report the first case of bullous hemorrhagic dermatosis induced by enoxaparin in Madagascar.
{"title":"Bullous Hemorrhagic Dermatosis Induced by Enoxaparin: About a Case in Madagascar.","authors":"Fenohasina Rakotonandrasana, Fandresena Arilala Sendrasoa, Andrianandrianina Mbolatiana Kiady Armando Rakotomanana, Herin'Ny Fitiavana Princia Andriatahina, Voahanginirina Nathalie Ralimalala, Samson Léophonte Ramily, Moril Sata, Onivola Raharolahy, Malalaniaina Andrianarison, Irina Mamisoa Ranaivo, Lala Soavina Ramarozatovo, Fahafahantsoa Rapelanoro Rabenja","doi":"10.1155/2023/5710870","DOIUrl":"10.1155/2023/5710870","url":null,"abstract":"<p><p>Bullous hemorrhagic dermatosis is an adverse reaction occurring within 5 to 21 days after anticoagulation; the diagnosis is to be evoked in the presence of hemorrhagic bullous lesions at a distance from the injection site in the days following the introduction of anticoagulant; this is a diagnosis of exclusion. It is a rare pathology that mainly affects the elderly. A 54-year-old man presented with bullous hemorrhagic lesions on the left upper limb starting at the 4th day after enoxaparin injection, diagnosed as a bullous hemorrhagic dermatosis induced by enoxaparin. We report the first case of bullous hemorrhagic dermatosis induced by enoxaparin in Madagascar.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2023 ","pages":"5710870"},"PeriodicalIF":0.0,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10635747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89716993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-10-23eCollection Date: 2023-01-01DOI: 10.1155/2023/5189034
Sean McCormack, Noor Tazudeen, Benjamin C Garden
Hidradenitis suppurativa (HS) is an inflammatory dermatosis associated with overactive T helper 1/T helper 17 (Th1/Th17) cells. HS has been effectively treated with biologic medications; however, many such biologics lack large randomized controlled trials. Only one such biologic, adalimumab, has been approved by the US Food and Drug Administration (FDA) for the treatment of HS. Other such biologics currently being studied for HS downregulate Th1/Th17 inflammatory pathways. We describe a patient with atopic dermatitis (AD) and comorbid HS, both of which improved several months into treatment with dupilumab. Interestingly enough, dupilumab targets Th2-mediated inflammatory skin conditions through the inhibition of IL-4/IL-13 cytokines. While dupilumab is known for its success in treating Th2-mediated inflammation, this presents a paradox as HS is a Th1/Th17 inflammatory condition. This case highlights how the inflammatory process of HS is not fully understood and how biologic pharmacologic interventions need to be further studied to determine their efficacy in treating HS.
{"title":"Is Exploration of Alternate Immune Pathways Needed in Hidradenitis Suppurativa? A Case of Atopic Dermatitis and Concurrent Hidradenitis Suppurativa Responding to Dupilumab.","authors":"Sean McCormack, Noor Tazudeen, Benjamin C Garden","doi":"10.1155/2023/5189034","DOIUrl":"https://doi.org/10.1155/2023/5189034","url":null,"abstract":"<p><p>Hidradenitis suppurativa (HS) is an inflammatory dermatosis associated with overactive T helper 1/T helper 17 (Th1/Th17) cells. HS has been effectively treated with biologic medications; however, many such biologics lack large randomized controlled trials. Only one such biologic, adalimumab, has been approved by the US Food and Drug Administration (FDA) for the treatment of HS. Other such biologics currently being studied for HS downregulate Th1/Th17 inflammatory pathways. We describe a patient with atopic dermatitis (AD) and comorbid HS, both of which improved several months into treatment with dupilumab. Interestingly enough, dupilumab targets Th2-mediated inflammatory skin conditions through the inhibition of IL-4/IL-13 cytokines. While dupilumab is known for its success in treating Th2-mediated inflammation, this presents a paradox as HS is a Th1/Th17 inflammatory condition. This case highlights how the inflammatory process of HS is not fully understood and how biologic pharmacologic interventions need to be further studied to determine their efficacy in treating HS.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2023 ","pages":"5189034"},"PeriodicalIF":0.0,"publicationDate":"2023-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10615576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71421020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Erythema multiforme (EM) is an acute inflammatory, mucocutaneous, psychosomatic, and vesiculobullous condition that varies from minor to major forms. The acral distribution of target lesions is a characteristic of this condition. The aetiology of erythema multiforme is multifactorial. 90% of the cases are triggered by a herpes infection, whereas 10% occur secondary to drug intake. The offending drugs include nonsteroidal anti-inflammatory drugs, antibiotics, and anticonvulsants. The present case series discusses four cases of drug-induced erythema multiforme and their management.
{"title":"Drug-Induced Erythema Multiforme.","authors":"Peeyush Shivhare, Naqoosh Haidry, Anka Sharma, Deepali Agrawal, Abhishek Gupta, Shalini Subramanyam","doi":"10.1155/2023/8706006","DOIUrl":"https://doi.org/10.1155/2023/8706006","url":null,"abstract":"<p><p>Erythema multiforme (EM) is an acute inflammatory, mucocutaneous, psychosomatic, and vesiculobullous condition that varies from minor to major forms. The acral distribution of target lesions is a characteristic of this condition. The aetiology of erythema multiforme is multifactorial. 90% of the cases are triggered by a herpes infection, whereas 10% occur secondary to drug intake. The offending drugs include nonsteroidal anti-inflammatory drugs, antibiotics, and anticonvulsants. The present case series discusses four cases of drug-induced erythema multiforme and their management.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2023 ","pages":"8706006"},"PeriodicalIF":0.0,"publicationDate":"2023-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10615586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71421019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Autoimmune bullous diseases (AIBDs) following coronavirus disease (COVID-19) vaccination have been previously documented in medical literature, given the comparable nature of the RNA antigen in these vaccines to that of the cellular nuclear matter. However, pemphigus foliaceus has been reported less frequently than other postimmunization AIBDs worldwide. Two women were admitted to our hospital with skin erosion over their faces, trunks, and extremities after receiving COVID-19 vaccination. Upon examination and consultation with pathologists, the diagnosis of pemphigus foliaceus was confirmed for both patients. In an effort to contribute to the knowledge on this intriguing topic, we present these two aforementioned cases of pemphigus foliaceus following COVID-19 vaccination, which may initially appear as a typical occurrence but exhibit some noteworthy characteristics.
{"title":"Pemphigus Foliaceus after COVID-19 Vaccination: A Report of Two Cases.","authors":"Nguyen Nhat Pham, Thuy Thi Phan Nguyen, Thao Thi Phuong Vu, Hao Trong Nguyen","doi":"10.1155/2023/1218388","DOIUrl":"https://doi.org/10.1155/2023/1218388","url":null,"abstract":"<p><p>Autoimmune bullous diseases (AIBDs) following coronavirus disease (COVID-19) vaccination have been previously documented in medical literature, given the comparable nature of the RNA antigen in these vaccines to that of the cellular nuclear matter. However, pemphigus foliaceus has been reported less frequently than other postimmunization AIBDs worldwide. Two women were admitted to our hospital with skin erosion over their faces, trunks, and extremities after receiving COVID-19 vaccination. Upon examination and consultation with pathologists, the diagnosis of pemphigus foliaceus was confirmed for both patients. In an effort to contribute to the knowledge on this intriguing topic, we present these two aforementioned cases of pemphigus foliaceus following COVID-19 vaccination, which may initially appear as a typical occurrence but exhibit some noteworthy characteristics.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2023 ","pages":"1218388"},"PeriodicalIF":0.0,"publicationDate":"2023-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602704/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71410834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-10-12eCollection Date: 2023-01-01DOI: 10.1155/2023/3428162
Hannah C Tolson, Mariana McCune, Miranda Yousif, David DiCaudo, Elizabeth Dupuy
Reactive granulomatous dermatitis (RGD) is an umbrella term to describe a reaction pattern characterized by skin-colored to erythematous papules, plaques, and nodules although other morphologies have been described. RGD has rarely been reported in children, and in this report, we present the case of a 3-year-old girl with acute lymphoblastic leukemia (ALL) who presented with firm, tender nodules, and ulcerated plaques on her extremities. Histopathologic examination showed foci of dense granulomatous inflammatory infiltrates composed of histiocytes, neutrophils, and multinucleate giant cells. The constellation of clinical symptoms, negative infectious workup, and histopathology support the diagnosis of RGD.
{"title":"Reactive Granulomatous Dermatitis in a Child with Acute Lymphoblastic Leukemia.","authors":"Hannah C Tolson, Mariana McCune, Miranda Yousif, David DiCaudo, Elizabeth Dupuy","doi":"10.1155/2023/3428162","DOIUrl":"10.1155/2023/3428162","url":null,"abstract":"<p><p>Reactive granulomatous dermatitis (RGD) is an umbrella term to describe a reaction pattern characterized by skin-colored to erythematous papules, plaques, and nodules although other morphologies have been described. RGD has rarely been reported in children, and in this report, we present the case of a 3-year-old girl with acute lymphoblastic leukemia (ALL) who presented with firm, tender nodules, and ulcerated plaques on her extremities. Histopathologic examination showed foci of dense granulomatous inflammatory infiltrates composed of histiocytes, neutrophils, and multinucleate giant cells. The constellation of clinical symptoms, negative infectious workup, and histopathology support the diagnosis of RGD.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2023 ","pages":"3428162"},"PeriodicalIF":0.0,"publicationDate":"2023-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10586894/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49688868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-10-12eCollection Date: 2023-01-01DOI: 10.1155/2023/5577379
Rand Murshidi, Heba Al-Lala
Ectodermal dysplasias (ED) encompass a collection of conditions wherein the development of two or more structures derived from the ectoderm exhibits abnormal patterns. One example of such a rarity within the spectrum of ectodermal dysplasias is hidrotic ectodermal dysplasia, also known as Clouston syndrome. This particular variant is distinguished by a triad of clinical characteristics, which encompass partial-to-complete alopecia, nail dystrophy, and palmoplantar hyperkeratosis. It stands as a scarcely encountered autosomal-dominant inherited disorder, resulting from a mutation in the GJB6 gene that encodes the gap junction protein connexin 30. We hereby document the case of a forty-five-year-old Jordanian woman who presented with alopecia affecting the scalp, eyebrows, and eyelashes, in addition to nail dystrophy. Interestingly, she did not manifest palmoplantar keratoderma. It is worth mentioning that several members of her extended family also manifested similar clinical features. Subsequent genetic testing conclusively established the diagnosis of Clouston syndrome. In light of this diagnosis, comprehensive counseling was extended to the patient.
{"title":"Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation.","authors":"Rand Murshidi, Heba Al-Lala","doi":"10.1155/2023/5577379","DOIUrl":"10.1155/2023/5577379","url":null,"abstract":"<p><p>Ectodermal dysplasias (ED) encompass a collection of conditions wherein the development of two or more structures derived from the ectoderm exhibits abnormal patterns. One example of such a rarity within the spectrum of ectodermal dysplasias is hidrotic ectodermal dysplasia, also known as Clouston syndrome. This particular variant is distinguished by a triad of clinical characteristics, which encompass partial-to-complete alopecia, nail dystrophy, and palmoplantar hyperkeratosis. It stands as a scarcely encountered autosomal-dominant inherited disorder, resulting from a mutation in the GJB6 gene that encodes the gap junction protein connexin 30. We hereby document the case of a forty-five-year-old Jordanian woman who presented with alopecia affecting the scalp, eyebrows, and eyelashes, in addition to nail dystrophy. Interestingly, she did not manifest palmoplantar keratoderma. It is worth mentioning that several members of her extended family also manifested similar clinical features. Subsequent genetic testing conclusively established the diagnosis of Clouston syndrome. In light of this diagnosis, comprehensive counseling was extended to the patient.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2023 ","pages":"5577379"},"PeriodicalIF":0.0,"publicationDate":"2023-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10586907/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49688867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-09-14eCollection Date: 2023-01-01DOI: 10.1155/2023/6640311
Mónica Guevara, Michelle Mafla, Camila Miño
Mal de Meleda (MDM) is a rare autosomal palmoplantar keratoderma (PPK) skin disorder (estimated incidence of 1 per 100,000 people) commonly associated with consanguinity and early childhood onset. MDM is characterized by bilateral diffusion of PPK plaques with delimited yellowish lesions that transgredien to the dorsum of the hands and feet. Additional features include nail dystrophy, lichenoid lesions, hyperhidrotic maceration, involvement of the knees and elbows, malodor, fungal superinfections, and digital constrictions. A male patient aged 42 years presented with asymptomatic, chronic, and diffused PPK lesions that progressed to the dorsal surface of the hands and feet, along with knees and elbows involvement. On clinical examination, asymmetrical lesions were observed on the hands, the left palm with yellowish waxy hyperkeratotic plaques, and the right palm with erythematous scaling and hyperkeratotic interphalangeal rings. The soles of the feet presented with yellow waxy hyperkeratotic plaques. In addition, nail dystrophy and loss of dermatoglyphics were observed. Initially, symptomatic topical treatment was established. However, owing to the lack of clinical response, a biopsy was performed, which revealed thickened corneal layer, acanthosis, spongiosis, and perivascular lymphohistiocytic infiltrate. MDM diagnosis was confirmed based on a personal history of consanguinity, clinical presentation with absence of systemic symptoms, and transgredien pattern of the lesions. Systemic treatment with low doses of isotretinoin (10 mg orally everyday) was initiated, and two months later, slight clinical improvement has been observed until date. The present case report describes MDM in a Hispanic patient, who presented with asymmetric PPK lesions on the hands and received isotretinoin treatment.
Mal de Meleda(MDM)是一种罕见的常染色体掌跖角化病(PPK)皮肤病(估计发病率为十万分之一),通常与血缘关系和儿童早期发病有关。MDM的特征是PPK斑块的双侧扩散,有界限的黄色病变,这些病变转移到手和脚的背侧。其他特征包括指甲营养不良、地衣样病变、多汗浸渍、膝盖和肘部受累、恶臭、真菌重叠感染和指关节收缩。一名42岁的男性患者 年表现为无症状、慢性和弥漫性PPK病变,进展至手和脚的背表面,同时伴有膝盖和肘部受累。临床检查发现手部不对称病变,左手掌有黄蜡状角化过度斑块,右手掌有红斑性鳞屑和角化过度的指间环。脚底出现黄色蜡状角化过度斑块。此外,还观察到指甲营养不良和皮纹缺失。最初,建立了症状性局部治疗。然而,由于缺乏临床反应,进行了活检,发现角膜层增厚、棘皮病、海绵状血管病和血管周围淋巴组织细胞浸润。MDM的诊断是根据个人血亲史、无全身症状的临床表现和病变的变性模式来确认的。低剂量异维甲酸的全身治疗(10 每日口服mg),两个月后,迄今为止,观察到轻微的临床改善。本病例报告描述了一名西班牙裔患者的MDM,该患者手部出现不对称PPK病变,并接受了异维甲酸治疗。
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