Journal of dermatological case reports最新文献

Background: Cutaneous involvement by Hodgkin lymphoma is extremely rare and usually follows extensive involvement of the lymph nodes. Cutaneous manifestations of Hodgkin lymphoma may be divided into specific and non-specific. Generalized pruritus is one of the most common non-specific presentations of Hodgkin lymphoma as is cutaneous granulomas. Such signs and symptoms should prompt thorough physical exam, including evaluation of lymph nodes, especially in a young patient.

Main observation: We report a case of a 22-year-old man who presented with night sweats, weight loss, dry cough, and generalized maculopapular eruption that started with a large patch in the center of the chest and spread to the extremities. Biopsy of the rash revealed pityriasis rosea-like findings. A computerized tomography scan of the chest revealed a mediastinal mass. Biopsy of the mediastinal mass revealed Reed-Sternberg cells in a fibrotic background, diagnostic of Hodgkin lymphoma, nodular sclerosis type.

Conclusion: In conclusion, the presentation of Hodgkin lymphoma as a pityriasis rosea-like cutaneous eruption is rare and clinicians should be aware of this presentation. In this paper we review the non-specific cutaneous manifestations of Hodgkin lymphoma in an effort to raise awareness of the diversity of early cutaneous signs of Hodgkin lymphoma.

Background: Eccrine angiomatous hamartoma is a rare benign cutaneous malformation with a diverse clinical appearance, therefore likely to be misdiagnosed and underreported.

Main observations: A 44-year-old man presented with a congenital erythematous hyperhidrotic plaque on the left upper back measuring 18 x 25 cm. No pain or tenderness nor hypertrichosis were observed. Histopathology was consistent with the mucinous variant of eccrine angiomatous hamartoma. Intralesional injection of botulinum toxin type A greatly reduced localized sweating, improving patient quality of life.

Conclusions: This article describes a novel clinical presentation of eccrine angiomatous hamartoma: large, erythematous, and slightly indurated plaque localized on the upper back. It emphasizes the role of histopathology in the diagnostic process and botulinum toxin as a viable treatment option.

Background: Brooke-Spiegler syndrome (BSS) is probably an underdiagnosed genodermatosis that predisposes for the development of cylindromas, spiradenomas and trichoepitheliomas mainly of the head and neck. Wide phenotypic variability regarding the number and type of lesions can be observed within a family. Mutations of the CYLD gene are identified in the vast majority of cases and play a key role in BSS pathogenesis.

Main observations: Two first degree relatives with numerous erythematous telangiectatic nodules of the scalp present for decades, with recurring tendency regardless the multiple previous excisions. Histopathological review of the lesions revealed predominantly "spiradenocylindromas" in the proband and cylindromas in her sister. The suspicion of BSS was confirmed after detection of a new nonsense germline mutation of CYLD (c.1783C>T pGln 595*) in the proband.

Conclusions: BSS diagnosis can be challenging and is based on clinical-pathological correlation, positive familial association and identification of CYLD mutations. CYLD exerts antineoplastic effects by downregulating intracellular NF-κB signalling pathways. The reported mutation affecting the ubiquitin-specific protease domain leads to a truncated and catalytically inactive enzyme. Despite the expanding list of CYLD mutations no firm genotype-phenotype correlation is known so far. Early recognition and treatment of BSS avoid disfiguring changes like "turban tumor".

Actinic keratosis (AKs) is one of the most common skin lesions leading to an increased risk of developing squamous cell carcinoma and other skin malignancies. The lesions principally arise as a result of excessive ultraviolet (UV) exposure. AKs may regress spontaneously, remain stable or evolve to invasive squamous cell carcinoma. The risk of squamous cell carcinoma is significantly increased patients with more than 5 AKs. The main mechanisms involved in the formation of AK are inflammation, mutagenesis, oxidative stress, impaired apoptosis, immunosuppression, disregulation of cell growth and proliferation, and tissue remodeling. Human papilloma virus has also been correlated with the formation of some AKs. As an individual ages, his skin is exposed to increasing cumulative amounts of UV light and other environmental insults. This is especially true for the head, neck and forearms. These insults do not target only the skin where individual lesions develop, but also the surrounding area. In this area undetectable preclinical AK lesions or dysplastic cells may be present. The whole affected area is known as the 'field'. Therefore, management is divided into lesion-directed and field-directed therapies. Currently, the therapies in use are lesion-directed cryotherapy and/or excision, and field-directed topical agents: 5-fluorouracil, diclofenac, photodynamic therapy, imiquimod, and ingenol mebutate. Combining lesion- and field-directed therapies showed good results and several novel therapies are under investigation. Treatment is variable and personalized, what makes a gold standard management algorithm difficult to design. This review aims to describe the rationale behind the available treatment options for AKs based on current understanding of pathophysiology and epidemiology.

Background: Colloid milium is a rare cutaneous deposition disorder characterized by translucent papules developing on sun-exposed regions such as the face, neck and dorsal aspects of the hands and back. Exogenous ochronosis is caused by the accumulation of homogentisic acid resulting from long-term application of certain topical agents. Histology is characterized by yellow-brown pigment deposits in the papillary dermis. Prolonged use of hydroquinone may result in the development of the pigmented form of colloid milium, sometimes in association with ochronosis.

Case report: A 53-year-old man presented with a 3-year history of multiple slow spreading pigmented papules on the dorsa of his hands, nose and ears. The patient had a long history of exposure to sun and fertilizers with no history of using hydroquinone bleaching creams. A later biopsy revealed the diagnosis of pigmented colloid milium associated with exogenous ochronosis.

Conclusion: UV light damage and long contact with fertilizers may have a role in the development of pigmented colloid milium associated with exogenous ochronosis.

Background: Erlotinib is a targeted anti-cancer drug which acts through the inhibition of epidermal growth factor receptor (EGFR).

Main observations: A 79-year-old developed bilateral ectropion after he received erlotinib treatment for lung adenocarcinoma. The ectropion completely resolved with symptomatic treatment without any modification in erlotinib therapy.

Conclusions: EGFR inhibitors are frequently associated with a variety of mucocutaneous adverse events. Ocular toxicity associated with these agents has been reported rarely. We present this case to underline the importance of recognition of newly reported cutaneous and ocular adverse events of targeted therapies.

Background: Dermatofibromas are common benign skin neoplasms.

Main observations: The authors report the clinical, dermoscopic and histopathological features of a hemosiderotic dermatofibroma mimicking melanoma in an 85-year-old woman.

Conclusions: Atypical dermoscopic patterns may prove difficult to differentiate from melanocytic lesions, and because of its polymorphic, melanoma-like presentation, definite diagnosis of hemosiderotic dermatofibroma can be reached by histopathological examination.

Dermatofibrosarcoma protuberans (DFSP) in children is often clinically misdiagnosed as hemangioma or vascular malformation. Ultrasonography and color Doppler imaging are useful noninvasive tools for the diagnosis of skin tumors and may help distinguish DFSP from other vascular skin lesions in children.

Lamellar ichthyosis is a rare congenital disorder characterized by collodion membrane at birth and facial anomalies (eclabium and ectropion). The major underlying genetic defect is in TGM1, with mutations of this gene found in 50% of patients. An early diagnosis is fundamental in view of establishing a specific treatment due to the severity of the disease. We report a case of severe lamellar ichthyosis and arthrogryposis, without the typical facial presentation, negative for TGM1 mutations. The clinical improvement was achieved only after treatment with oral retinoids, highlighting the importance of early diagnosis and prompt administration of a specific therapy.

We report a case with an unusual manifestation of bullous pemphigoid (BP) in a 57-year-old woman. She presented with a one-month history of pruritus and multiple annular patches with central regression on her trunk and extremities and there were no signs of corresponding internal malignancy. Eosinophilic spongiosis was observed in histopathologic examination and direct immunofluorescence studies revealed a strong linear staining pattern of the basement membrane zone with C3 and IgG. This unusual case indicates that a lack of blisters does not necessarily exclude a diagnosis of BP, and supports previous reports suggesting gyrate erythema can be an initial manifestation of bullous disease.