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Rhabdomyomatous mesenchymal hamartoma (RMH), also known as congenital midline hamartoma and striated muscle hamartoma, is a rare congenital malformation presenting most commonly in midline sites of the head and neck region. Since its first description in 1986, 67 cases have been reported to date. We report a case of RMH presenting as a chin nodule in an otherwise healthy 15-year-old male.

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[PENS (papular epidermal nevus with "skyline" basal cell layer)].

Ann Dermatol Venereol

January 2015

Département de dermatologie, hôpital Saint-Éloi, université Montpellier 1, CHU, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. Electronic address:

Background: PENS is a rare neuro-cutaneous syndrome that has been recently described. It involves one or more congenital epidermal hamartomas of the papular epidermal nevus with "skyline" basal cell layer type (PENS) as well as non-specific neurological anomalies. Herein, we describe an original case in which the epidermal hamartomas are associated with autism spectrum disorder (ASD).

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A 3-month-old boy presented with a congenital atrophic plaque on his right palm. On histopathologic examination, bundles of mature striated muscle were noted replacing the subcutis and extending into the dermis, without any other mesenchymal component seen. We have not been able to find a similar previously reported case.

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A 10-year-old boy, affected by cleft lip and palate and the Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome, presented with hypodontia, microdontia, enamel hypoplasia and caries, as well as white macules and plaques on the buccal mucosa bilaterally. Verrucous plaques were noted on the right side and a smooth diffuse white macule was present on the left side. Samples of each were taken by incisional biopsy.

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Isolated choroidal melanocytosis: a distinct clinical entity?

Graefes Arch Clin Exp Ophthalmol

November 2006

Department of Ophthalmology, Health Professions Building, Suite 350, 3223 Eden Avenue, Cincinnati, OH 45267-0527, USA.

Purpose: The objective was to describe a distinct, limited form of congenital ocular melanocytosis that involves the choroid only.

Methods: A retrospective descriptive case series study of 11 patients with similar appearing broad-based but entirely flat melanotic choroidal lesions was carried out.

Results: All 11 lesions were homogeneously dark brown in color with at least one striated margin.

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