Multiple agminate Spitz naevi

We report two patients with multiple agminate Spitz naevi (MASM), a rare disorder. In case 1, a 16-year-old girl, the results of chromosomal investigation of fibroblasts from the affected area (translocation 45, X, t(4; 7) (p14; p22) in a mosaic pattern) suggest that early during embryogenesis a de...

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Veröffentlicht in:Melanoma research 1998-04, Vol.8 (2), p.156-160
Hauptverfasser: Hulshof, M M, van Haeringen, A, Gruis, N A, Snels, D C, Bergman, W
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container_title Melanoma research
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creator Hulshof, M M
van Haeringen, A
Gruis, N A
Snels, D C
Bergman, W
description We report two patients with multiple agminate Spitz naevi (MASM), a rare disorder. In case 1, a 16-year-old girl, the results of chromosomal investigation of fibroblasts from the affected area (translocation 45, X, t(4; 7) (p14; p22) in a mosaic pattern) suggest that early during embryogenesis a de novo reciprocal translocation has occurred between chromosomes 4 and 7. This resulted in the skin lesions as described on the right shoulder, arm and hand. The melanoma risk in MASM is also discussed.
doi_str_mv 10.1097/00008390-199804000-00009
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subjects Adolescent
Arm
Biopsy
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 7
Female
Hand
Humans
Male
Melanoma - epidemiology
Nevus, Epithelioid and Spindle Cell - genetics
Nevus, Epithelioid and Spindle Cell - pathology
Risk
Shoulder
Skin Neoplasms - genetics
Skin Neoplasms - pathology
Translocation, Genetic
title Multiple agminate Spitz naevi
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