Basaloid follicular hamartomas in pediatric Basal Cell Nevus Syndrome: A diagnostic challenge.

Basal Cell Nevus Syndrome (BCNS) is an autosomal dominant inherited disease caused by PTCH1 (9q22.3-q31) germline mutations. Skin manifestations are mainly characterized by hyperkeratosis of the palms and soles, palmoplantar pits and a strong predisposition to develop multiple basal cell carcinomas (BCCs). Recently, it has been hypothesized that basaloid follicular hamartomas (BFH) could be included in BCNS skin features. We present three pediatric cases of GS with BCCs and BFHs. Clinical, dermoscopic and immunohistochemical tools are reported.

Lichen sclerosus with enlarged vessels: A variant of lichen sclerosus in young girls.

Vascular findings have rarely been described in the setting of lichen sclerosus. Enlarged vessels within the atrophic plaques have been observed on the free margins of the labia minora and clitoral hood. The enlarged vessels completely remit upon treatment of lichen sclerosus with an ultra-potent corticosteroid ointment in the acute phase. During maintenance therapy with calcineurin inhibitors, there was no recurrence of the enlarged vessels.

Sonographic features of vaccination granulomas in children with delayed-type hypersensitivity to aluminum.

In this article, we report the sonographic features of vaccination granulomas in three children sensitized to aluminum. Although the recognition of the vaccination granuloma relies on the clinical examination, misdiagnosis is frequent, leading to distressful procedures or prolonged antibiotic administration. In all our cases, sonography revealed a teardrop-shaped echogenic central structure, suggesting the deposition of aluminum crystals along the route of administration with consequent subcutaneous degenerative changes, and a surrounding hypoechoic cap, which reflects the changeable inflammatory reaction and the granuloma formation.

A Second Case of Gobello Nevus Syndrome.

An uncommon type of epidermal nevus characterized by hyperpigmented hyperkeratotic bands following a Blaschko-linear pattern and generalized follicular hyperkeratosis were observed in a 17-year-old male patient who additionally showed tufted hair folliculitis on the scalp and clinodactyly of the fifth finger of both hands. The combination of epidermal nevus with skeletal abnormalities was first described by Gobello et al. [Dermatology 2000;201:51-55] as a new epidermal nevus syndrome that was named after the first author of this work. Our case shows identical clinical and histopathological features and represents the second case of this rare syndrome reported in the literature.

Dermatologic manifestations and neuropathic symptoms in women with Fabry disease.

Fabry disease (angiokeratoma corporis diffusum universale) is a rare, progressive, X-linked lysosomal storage disease. Deficiency of the α-galactosidase A (α-gal A) enzyme leads to accumulation of neutral glycosphingolipids within vascular endothelial lysosomes of various organs, including skin, kidneys, heart, and brain (1). We herein describe the case of a 30-year-old female presenting two classic signs of Fabry disease, angiokeratomas and episodic acroparesthesias, in the absence of other clinical manifestations. An haplotype corresponding to the combination of three different nucleotide polymorphic variants (g. 7192-7198del5+ g. 10115A>G + g. 10956 C>T) at the heterozygous state, was identified (2).

Familial papular epidermal nevus with "skyline" basal cell layer.

Papular epidermal nevus with "skyline" basal cell layer (PENS), a novel keratinocytic nevus, has recently been described as a mosaic condition with varying presentations. We herein describe typical PENS lesions, which usually occur sporadically, affecting two members of the same family. The concept of paradominant inheritance is proposed to explain the paradox of occasional transmission of normally sporadically occurring traits.