Papular epidermal nevus with "skyline" basal cell layer (PENS), a variant of epidermal nevus, was recently described in otherwise normal children. We describe herein a patient with multiple, typical PENS lesions associated with peculiar facies, bilateral Achilles tendon shortening, and mild psychomotor delay. The association of PENS with extracutaneous manifestations suggests the possibility of a new type of epidermal nevus syndrome, for which we propose the term PENS syndrome.
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http://dx.doi.org/10.1111/j.1525-1470.2012.01830.x | DOI Listing |
J Med Case Rep
December 2024
College of Medicine and Life Sciences, Division of Plastic and Reconstructive Surgery, University of Toledo, 3000 Arlington Ave, Toledo, OH, 43614, USA.
Background: Although rare, melanoma confined to the dermis or subcutaneous tissue without evidence of a primary cutaneous site should provoke consideration of melanoma of unknown primary. This diagnosis carries a favorable prognosis when compared with cutaneous metastatic melanoma. Several hypotheses have been proposed for how melanoma of unknown primary develops, two of which were considered in our patient case: (1) spontaneous regression of the primary tumor following metastasis or (2) the traumatic implantation of ectopic melanocytic cells in other tissues, such as the subcutaneous tissue.
View Article and Find Full Text PDFMedicina (Kaunas)
October 2024
Department of Neurology and Neurosurgery, Riga Stradins University, 1007 Riga, Latvia.
Schimmelpenning syndrome, or epidermal nevus syndrome, is a rare, neurocutaneous disorder characterized by skin abnormalities, such as epidermal nevi, and involvement of the central nervous system, including intracranial tumors. There are only a few reported cases of intracranial tumors associated with Schimmelpenning syndrome. In most cases, a single nucleotide mutation in the RAS family proto-oncogenes, like or genes, can result in the genetic mosaicism that is responsible for the clinical manifestations of this syndrome.
View Article and Find Full Text PDFActa Med Philipp
September 2024
Department of Dermatology, Philippine General Hospital, University of the Philippines Manila.
This is a case of a 20-year-old female with no known comorbidities presenting with verrucous plaques arranged in a unilateral blaschkoid distribution at birth. Biopsy was consistent with epidermal nevus hence patient was diagnosed as systematized epidermal nevus, Nevus Unius Lateris type. Gold standard treatment is full thickness surgical excision however, due to the extensive involvement, treatment of this condition remains a challenge.
View Article and Find Full Text PDFClin Cosmet Investig Dermatol
October 2024
Department of Dermatology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
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