Hidradenocarcinoma is a rare and potentially aggressive malignant sweat gland tumor. It most commonly arises in the head and neck, though involvement of the lips is infrequent. We report the first recorded case of hidradenocarcinoma affecting the lower vermilion lip treated with Mohs micrographic surgery (MMS). A 41-year-old male presented with a 2-month history of a pruritic, rapidly growing lesion that bled on contact. Physical examination revealed a 1.5 cm nodule with superficial ulcerations and a flat, pink-red plaque superior to the nodule. Dermoscopy of this plaque demonstrated white structureless areas and polymorphic vessels. Histopathology showed features of hidradenocarcinoma arising within a clear cell hidradenoma with squamoid differentiation. The lesion was successfully treated with MMS. Postoperative imaging showed no metastatic disease. At 2-year follow-up, the patient remains free of recurrence.
BAP1-inactivated melanocytic tumors (BIMTs) are rare, diagnostically challenging skin lesions that require histopathological and molecular evaluation for accurate diagnosis. We present a case of a 50-year-old female diagnosed with a BIMT on the skin overlying her upper right trapezius noted during a comprehensive full body skin examination. Dermatopathological analysis confirmed the presence of a BAP1-inactivating melanocytoma, with positive staining for S100, SOX10, and P16, negative staining for p63, CD68, and PRAME and loss of BAP1 nuclear expression. This case reveals the importance of thorough skin examinations and genetic counseling in patients with BAP1-inactivated melanocytic lesions.
Application of negative pressure wound therapy (NPWT) to the digits is often limited by anatomical constraints, including a cylindrical contour, restricted sealing surface, and the need to preserve finger mobility. Although NPWT is beneficial for wound stabilization and skin graft fixation, practical techniques for digital application remain insufficiently described.A 56-year-old woman presented with a 10-year history of longitudinal melanonychia of the left index fingernail. Because of multiple concerning features, slow Mohs micrographic surgery was performed, and histopathology confirmed acral lentiginous melanoma in situ with clear margins. Reconstruction was achieved using a full-thickness skin graft harvested from the ipsilateral groin. To stabilize the graft, NPWT was applied at a continuous pressure of –140 mmHg using a modified polyurethane sponge. The sponge was shaped into a hollow C-shaped configuration with oblique trimming, allowing the digit to be positioned without circumferential compression. This configuration enabled uniform negative pressure distribution while preserving finger mobility. NPWT was maintained for 16 days with regular dressing changes, and the graft demonstrated stable take without complications.This modified C-shaped NPWT technique provides a practical solution for graft stabilization in anatomically challenging digital wounds and may facilitate broader use of NPWT in digital reconstruction while preserving function.
Sterol-C4-methyl oxidase deficiency, caused by pathogenic variants in MSMO1, is an ultra-rare inborn error of distal cholesterol biosynthesis characterized by heterogeneous multisystem manifestations. We describe a five-year-old Saudi boy born to consanguineous parents who presented with severe early-onset erosive psoriasiform dermatitis, mild developmental delay, and microcephaly at birth, with subsequent normalization of head circumference. Ophthalmologic evaluation revealed ulcerative blepharitis without structural ocular abnormalities or congenital cataracts. Whole-exome sequencing identified a novel homozygous MSMO1 missense variant (NM_006745.4:c.403T>C; p.Trp135Arg). Segregation analysis confirmed heterozygous carrier status in both parents and unaffected siblings. Baseline serum lipid fractions were within reference limits, consistent with previously reported MSMO1 cases in which routine lipid parameters may remain normal. Targeted metabolic therapy consisting of oral atorvastatin (10 mg daily), topical atorvastatin, and dietary cholesterol supplementation resulted in rapid dermatologic improvement within 8 weeks, with sustained clinical benefit at three-month follow-up; however, partial relapse occurred following temporary treatment interruption. This case expands the phenotypic spectrum of MSMO1 deficiency, highlighting a predominantly cutaneous presentation with mild neurological involvement and absence of cataracts.
