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DERMAL MELANOCYTE HAMARTOMA AND HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 2A

Authors :
Guglielmo Pranteda
Giuseppe Panasiti
Ugo Bottoni
Teresa Grieco
Vito Gomes
Simona Contini
Publication Year :
2002

Abstract

Sir, the appearance of new elements similar to blue naevus or cavernous hemangioma. Dermal melanocyte hamartoma (DMH) is a rare clinico-pathological entity characterized by the persistSkin biopsies from the large grey-blue patches on his back showed basal hyperpigmentation and slight orthoence of ectopic melanocytes in the dermis after birth (1–6). Related entities are the pilar neurocristic hamarkeratotic hyperkeratosis of the epidermis with normal number of intraepidermal melanocytes. In the upper toma (7) and phakomatosi s pigmentovasculari s type IVa (8, 9), in which the blue-coloured spots are associdermis, a mild perivascular inŽ ltrate was present with many melanophagic histiocytes. In the middle and lower ated with naevus  ammeus. Here, we report a rare case of DMH associated with dermis there were scattered spindle and elongated cells with dusty melanin cytoplasmatic granules disposed along hereditary motor and sensory neuropathy type 2A (HMSN 2A), also known as Charcot Marie Tooth collagen Ž bres (Fig. 2) or focally arranged in perineural and perivascular localization. An immunological test for disease, a neurological disorder with recessive autosomal inheritance, characterized by a demyelinizing peripheral S-100 protein performed with Avidin–Biotin–Complex (DAKO) and Diamino-Benzidine chromogen counneuropathy and progressive myopathy (10). terstained with Giemsa showed the nuclear and cytoplasmic positivity typical of neuro-ectodermal cells with CASE REPORT the green dusty appearance of melanin. The nerve bundles appeared only slightly hypertrophic, with minimal signs A 54-year-old man presented with several congenital pigmented lesions, mottled with small, well-demarcated of onion bulb appearance. This histological picture was consistent with the diagnosis of dermal melanocytosis. macular-papules of a dark-blue colour on the upper trunk and extensor region of the limbs, including hands, According to clinical and histological features we diagnosed a case of DMH. The patient was also aVected by with characteristic mantle distribution (Fig. 1). During childhood the macules had increased in number with a muscle hypotrophy in the forearms and hands, resulting in a claw-like appearance. The distal muscle atrophy of the lower limbs was notable too. There was no family history of neurological symptoms of this disease. The neurological motor disturbance manifested in the eighth year of life with a limp in the left leg. Symptoms worsened progressively, involving the other limbs. An electromyography and electroneurography showed a sensory-motor neuropathy associated with severe axonopathy. It has not been possible to perform the motor evoked potential because of severe muscular

Details

Language :
English
Database :
OpenAIRE
Accession number :
edsair.doi.dedup.....32149080ff4ac9af0d42e6373d9d0d4f