Adnan Mir

Cutaneous Features of Crouzon Syndrome With Acanthosis Nigricans

IMPORTANCE Crouzon syndrome with acanthosis nigricans is a distinct disorder caused by a mutation in the FGFR3 gene, featuring craniosynostosis, characteristic facial features, and atypical and extensive acanthosis nigricans. Other cutaneous findings have not been thoroughly described. OBSERVATIONS We report 6 cases and summarize the existing literature with regard to the cutaneous manifestations of this disorder. All patients have widespread, early-onset acanthosis nigricans. Patients often have prominent hypopigmented scars at surgical sites and nevi arising early in childhood. CONCLUSIONS AND RELEVANCE In addition to craniofacial malformations, Crouzon syndrome with acanthosis nigricans results in characteristic cutaneous findings.

Congenital Infantile Fibrosarcoma mimicking a cutaneous vascular lesion: A Case Report and Review of the Literature

Congenital infantile fibrosarcoma (CIFS) is a rare neoplasm of infancy that occurs most frequently in the extremities, and when presenting in the skin, may sometimes resemble infantile hemangiomas or other vascular lesions. Clinically, these tumors differ from hemangiomas in the time of onset, morphology, and growth pattern and must be evaluated histologically for definitive diagnosis. We describe an infant with a neoplasm involving the distal left forearm initially presumed to be a vascular lesion after evaluation by two separate ultrasound studies. He presented at seven weeks of life with a multinodular lesion that had enlarged significantly since birth, and the skin biopsy revealed a fibrosarcoma. This case highlights an unusual cutaneous presentation of CIFS, which varies in appearance from the previous 12 cases reported in the literature. We review the clinical manifestations of these congenital masses and emphasize early diagnosis for conservative therapy and improved prognosis.

Vulvar Nodules: A Rare Presentation of Mastocytosis

BACKGROUND Mastocytosis is a rare benign disorder characterized by the finding of mast cells in the skin and other organs, occurring in adult as well as pediatric age groups. The cutaneous form is the most common presentation in childhood and is rarely located on the vulva. CASE A 9-year-old prepubertal girl presented with bilateral vulvar nodules found incidentally by her pediatrician. Biopsy and histopathologic review confirmed mastocytosis. Her lesions significantly diminished over the following year. SUMMARY AND CONCLUSION Mastocytosis should be on the differential for lesions on the vulva in children, in addition to the more common disorders such as condyloma acuminata and molluscum contagiosum. It is a benign condition in children, and conservative, symptomatic management is recommended.

High-risk human papillomavirus in a child with digital pigmented Bowen's disease: Case report and dermoscopic findings

Squamous cell carcinoma in situ, also known as Bowens disease (BD), is a skin malignancy most commonly seen in middle‐aged and elderly adults. Pediatric BD is rare and can be a diagnostic challenge for physicians. Digital BD has largely been associated with human papilloma virus. We report an immunocompetent 11‐year‐old girl with periungual pigmented BD induced by high‐risk human papilloma virus.

Pernio as the presenting sign of blast crisis in acute lymphoblastic leukemia

A previously healthy 5‐year‐old girl presented with acute onset of blue toes and red spots on the nose and fingers. The striking nature of these lesions, along with the finding of submandibular lymphadenopathy, prompted further evaluation. Laboratory findings were remarkable for anemia, high transaminase levels, and high blast count. Histopathologic findings were consistent with early pernio. Further examination revealed acute B‐cell lymphoblastic leukemia. Treatment of the leukemia led to resolution of the pernio.

Acral Plexiform Palisaded Encapsulated Neuromas as the Initial Cutaneous Manifestation of Cowden Syndrome

Cowden syndrome (CS) is an autosomal dominant genodermatosis associated with characteristic mucocutaneous findings of facial trichilemmomas, palmoplantar keratoses, sclerotic fibromas, and oral papillomas. Mucocutaneous neuromas have also been reported in association with CS. We describe a patient with CS whose sole cutaneous finding was palisaded encapsulated neuromas (PENs) with a plexiform growth pattern in an acral location. Along with previous reports, this case suggests that acral plexiform PENs may be an early, highly specific finding in CS and highlights the importance of screening these patients for PTEN mutation.

Topical drug-induced subacute cutaneous lupus erythematosus isolated to the hands

Subacute cutaneous lupus erythematosus (SCLE) is a well-defined subtype of lupus erythematosus, characterised by photosensitivity, annular and/or psoriasiform lesions, variable systemic involvement and presence of circulating SSA/anti-Ro antibodies. SCLE may be idiopathic or drug-induced. Both the idiopathic and drug-induced forms of SCLE are analogous in their clinical, serological and histological features. Drug-induced SCLE has been reported with various oral agents, but to our knowledge this is the first reported case due to a topical medication. A 34-year-old female foot masseuse presented with a 2-month history of scaly, erythematous lesions isolated to the dorsal hands and interdigital spaces. She had used topical terbinafine, a topical antifungal cream, to her clients’ feet for a number of years. ANA and anti-SSA/Ro antibodies were positive. Physical examination, serology and histopathology were consistent with SCLE. We propose that our patients unique presentation of SCLE may be explained by a prolonged occupational exposure to topical terbinafine as a foot masseuse. While oral terbinafine is a drug known to cause drug-induced SCLE, to our knowledge, this is the first topically induced form of the disease.