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Folliculocystic and collagenous hamartoma of tuberous sclerosis complex, not always a single cutaneous lesion

Fecha de publicación:

Autores de IIS La Fe

Grupos

Abstract

Folliculocystic and collagenous hamartoma (FCCH) is a rare cutaneous manifestation characterized by the presence of single plaques studded with comedo-like openings and cysts. Although its pathophysiology is still unknown, it has generally been described in men with tuberous sclerosis complex (TSC). We report a case of a one-year-old child with two FCCH in the abdominal wall associated with TSC. In our case, a TSC2 mutation was identified. © 2020 Wiley Periodicals LLC.

Datos de la publicación

ISSN/ISSNe:
0736-8046, 1525-1470

PEDIATRIC DERMATOLOGY  WILEY

Tipo:
Article
Páginas:
1195-1197
PubMed:
33270294
Enlace a otro recurso:
www.scopus.com
Factor de Impacto:
0,542 SCImago ℠
Cuartil:
Q2 SCImago ℠

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Keywords

  • Child; Cysts; Hamartoma; Humans; Infant; Male; Nevus; Tuberous Sclerosis; Tuberous Sclerosis Complex 2 Protein; tuberin; tuberin; abdominal radiography; Article; case report; child; clinical article; clinical feature; collagen disease; disease association; exon; folliculocystic and collagenous hamartoma; gene mutation; hamartoma; heterozygosity; histopathology; human; human tissue; image analysis; intestine lymphangiectasia; kidney hemangiomyolipoma; male; medical history; neuroimaging; nuclear magnetic resonance imaging; physical examination; preschool child; priority journal; skin biopsy; skin defect; TSC2 gene; tuberous sclerosis; complication; cyst; hamartoma; infant; nevus

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