Case Reports in Dermatological Medicine最新文献

Keloids and hypertrophic scars share the same pathology, with immoderate collagen production being their main characteristic. Moreover, keloids and hypertrophic scars may occur as sequential disorders. Many studies have developed methods for treating these diseases; however, none have become the golden standard treatment. In this case study, closed keloid therapy using PERMEROLL (Nitoms, Inc., Tokyo, Japan) was administered to a 71-year-old female who presented with bacillus Calmette-Guerin keloids on her shoulder that had persisted for approximately 60 years. The gel (ITO Co., Ltd., Tokyo, Japan) was attached to the lesion, and the keloidal lesion was covered with PERMEROLL. Ten months following treatment, the hardness of the lesion, especially at its centre, had softened, its colour had lightened compared with the periphery and the thickness of the keloidal lesion had decreased. Overall, satisfactory results were noted. Closed keloid therapy with PERMEROLL enables the complete enclosure of the lesion and is an easier and cheaper method than the former treatment agent. Moreover, decreasing the level of thymic stromal lymphopoietin may be crucial for treating keloids.

Introduction and Importance: Epidermodysplasia verruciformis (EV), a rare hereditary skin disorder linked to HPV immunity, increases the risk of squamous cell carcinoma (SCC), typically in sun-exposed areas. This case highlights an extraordinary instance of SCC in a Sun-shielded region, marking the second documented case globally. Methods: The medical records and histopathological slides of the case were retrospectively reviewed. This work has been reported based on the CARE criteria. Case Presentation: A 28-year-old Palestinian woman, who adheres to a sun-protective Hijab due to her Muslim faith and has limited sun exposure working in a clothing store, with painful scalp lesions presented at the dermatology clinic. She and her siblings were diagnosed with EV. Three years ago, a painful, enlarging lesion on her scalp led to a diagnosis of trichoblastic carcinoma, followed by the development of six similar lesions. A year later, she returned with multiple painful, pus-producing lesions exhibiting features of trichoblastic and verrucous carcinoma, posing a challenging clinical scenario. Clinical Discussion: EV is a rare genetic skin disorder linked to EVER1/TCM6 or EVER2/TCM8 gene mutations, causing widespread warts due to specific HPV types. It heightens the risk of nonmelanoma skin cancer (NMSC), mainly SCC, often associated with beta-HPVs 5 and 8. Notably, atypical cases challenge the sun-exposure SCC concept. The reatment involves UV protection, retinoids, and close monitoring, critical to prevent lesion recurrence and aggressive malignancy interventions upon therapy discontinuation. Conclusion: In this unique case, a patient with EV developed SCC in an uncommonly sun-protected skin area, highlighting the extreme rarity of such an event within the context of this condition's complications.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, highly aggressive CD4+ CD56+ hematopoietic malignancy. The cutaneous presentation is variable but often includes violaceous nodules. We present a rare case of BPDCN, which featured dermatological findings consisting of erythematous macules, petechiae, purpura, and a violaceous nodule. A skin biopsy and peripheral blood smear supported a diagnosis of BPDCN. With BPDCN favoring cutaneous involvement, we urge dermatologists to be aware of the possibility of a BPDCN diagnosis in patients who present with purpuric nodules and petechial skin findings, especially when it is not easily explainable by another pathology or medication.

Atrophoderma of Pasini and Pierini is a rare skin disease that presents with dermal atrophy. Differentiating this condition from morphea remains a challenge. Etiology is unknown, and there is no effective treatment till date. The diagnosis is made through clinicohistopathological correlation.

Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing soft tissue tumor affecting the dermis and subcutaneous tissues, with potential involvement of muscle and fascia. This case report describes a 68-year-old Caucasian male with a history of recurrent DFSP on the left cheek, initially excised 36 years ago, with multiple recurrences despite wide local excisions (WLEs), eventually requiring left orbital enucleation, presenting to the clinic with a 10-year history of a slow-growing lesion on the left temporal scalp. Examination revealed a 2 cm flesh-colored, firm nodule, which biopsy confirmed as DFSP. Despite two subsequent WLEs, positive margins persisted. The patient refused further surgical intervention and was referred for imatinib and radiation therapy, which he also declined. MRI revealed additional nodules near the left zygomatic arch and sternocleidomastoid. DFSP is diagnosed via biopsy, often confirmed with CD34 immunohistochemistry. Optimal treatment is Mohs micrographic surgery (MMS), but WLE is also used. The recurrence rate is high, especially in head and neck locations. This case underscores the necessity for multidisciplinary management and highlights the critical role of thorough physical and histopathologic examinations. Close clinical follow-up is essential due to the high recurrence risk within the first three years post-treatment. This report emphasizes the importance of early detection and comprehensive care strategies to manage DFSP effectively.

Granulomatosis with polyangiitis (GPA) is an ANCA-associated necrotizing vasculitis that causes granulomatous inflammation of small vessels in the respiratory tract and mucosa; GPA in childhood is a rare occurrence that presents distinctly as either a chronic, granulomatous disease that is clinically localized or as an acute vasculitis with rapidly progressive pulmonary or renal hemorrhage. We present two distinct cases of GPA in pediatric patients whose diagnoses were confirmed according to clinical presentation and scoring guidelines offered by the ACR/EULAR GPA Criteria. Despite a negative cANCA result, Patient 1 demonstrated a score of 9 based on the ACR/EULAR criteria for GPA diagnosis. This was based on the patient's physical examination, which revealed tender nodules and plaques along the face as well as a crusted ulceration in the left concha. A punch biopsy of the left lateral forehead revealed necrotizing angiitis with neutrophil-predominant inflammatory infiltrate and giant cells on pathological analysis. In contrast, Patient 2 displayed a score of 13 as reflected in the extent of systemic disease involvement, with ulcerations and nodules scattered along the torso, extremities, and genitalia. Laboratory workup revealed ANCA positivity. Additionally, this patient experienced granuloma formation of the right optic nerve, ethmoid sinus infiltration with damage to the nasal septum, and bilateral cavitary masses on CXR. There is a paucity of data in characterizing GPA in childhood, as evidence is based on small cohort studies and case reports in this unique demographic. The clinical presentations in our report underscore the need for early disease detection and comprehensive workup, as timely diagnosis and optimal treatment regimens may improve the prognoses of pediatric patients with GPA.

Recessive dystrophic epidermolysis bullosa (RDEB) belongs to a rare group of inherited dermatoses, which are characterised by mucosal and cutaneous fragility. Cutaneous squamous cell carcinoma (CSCC) is a common complication of RDEB. In the severe subtype of RDEB (RDEB-S), CSCC is observed in 90% of the patients by 55 years. CSCC in patients with RDEB follows an aggressive course with the median survival rate of 2.4 years. We report the case of a 51-year-old female with RDEB with recurrent aggressive CSCC of the right lateral-back. She was commenced on cemiplimab, an anti-programmed death receptor-1 (PD-1) antibody, for the management of unresectable locally advanced CSCC; however, she experienced a severe infusion reaction, manifested as back pain, requiring treatment cessation. Despite three incomplete doses, the patient demonstrated a marked response with significant regression of her tumours. Therefore, further treatment was pursued. She was successfully administered cemiplimab under intravenous sedation. This was later complicated by immune-related colitis, necessitating treatment cessation. The patient was transitioned to best supportive care. The patient required inpatient admission for end-of-life care due to her complex analgesia requirements. This case report explores the pathophysiological mechanisms of pain in RDEB and anti-PD-1 antibody therapy and highlights the unique challenges of pain management in RDEB patients.

Introduction: Harlequin ichthyosis is a rare autosomal recessive genetic disorder resulting from mutations in the ABCA12 gene. It is marked by distinctive skin abnormalities, including armor-like thickened scales separated by deep fissures. This condition is infrequently reported in the African population. Clinical Findings: This report presents the case of a preterm neonate, born at 28 weeks of gestation, exhibiting dysmorphic features and severe generalized hyperkeratosis. The defining skin abnormalities included deep fissures across the head and trunk, bilateral eyelid ectropion, eclabium, underdeveloped auricles, and limbs enveloped in thick hyperkeratotic plaques with constricting bands and hypoplastic digits. Diagnosis, Interventions, and Outcomes: The diagnosis of harlequin ichthyosis was established based on the characteristic clinical presentation. Supportive care included routine neonatal management and conservative treatment for prematurity-related respiratory distress syndrome. However, specific therapies, such as systemic retinoids, could not be administered due to their unavailability in the clinical setting. Unfortunately, the neonate passed away on the fifth day of life due to respiratory complications. Conclusion: Harlequin ichthyosis remains associated with a high mortality rate, especially in resource-limited settings. Contributing factors include inadequate prenatal diagnostic services, restricted access to essential treatments, and insufficient neonatal care infrastructure, all of which exacerbate poor outcomes in developing countries.

Cutaneous endometriosis is a rare manifestation of endometriosis, and few reports on its dermoscopic features have been published. In this case report, we present a 40-year-old female with cutaneous endometriosis arising in a caesarean scar, exhibiting unique and distinct dermoscopic features. The patient presented with a nodular, papillomatous growth in the right end of the scar, and dermoscopic examination revealed structureless red papillomatous projections, as well as nonpapillomatous areas with red dotted vessels surrounded by a white reticular network. A biopsy confirmed the diagnosis of endometriosis. To our knowledge, this is the first report of such dermoscopic features in cutaneous endometriosis arising in a caesarean scar. Our case report adds to the current limited knowledge of dermoscopic features of cutaneous endometriosis and may help in the diagnosis of this condition.

Introduction: Cutaneous metastases of hepatocellular carcinoma (HCC) are uncommon but important to recognize for timely diagnosis and management. Case Presentation(s): We present a case of a 70-year-old man with a history of HCC who developed a painless nodule on the scalp. Histopathological examination and immunohistochemistry confirmed the nodule as cutaneous metastasis of HCC. The patient had previously undergone transarterial chemoembolization and surgery for HCC, with no evidence of disease for a period before presenting with the cutaneous lesion. Conclusion: Cutaneous metastasis of HCC is rare but signifies advanced disease. This case underscores the importance of considering cutaneous manifestations in patients with a history of HCC and highlights the need for routine follow-up and early intervention to improve patient outcomes.