Hipoplasia dérmica focal (síndrome de Goltz): Amplia variabilidad fenotípica

J. C. Acosta; A. Motta; J. C. Prieto

Hipoplasia dérmica focal (síndrome de Goltz): Amplia variabilidad fenotípica

Translated title of the contribution: Focal dermal hypoplasia (Goltz's syndrome): Wide phenotypic variability

J. C. Acosta
, A. Motta
, J. C. Prieto

Institute of Human Genetics

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

The focal dermal hypoplasia (MIM # 305600), also called mesoectodermica hypoplasia is a rare disease. It is thought to be an X-linked dominant disorder. Mainly undertakes skin, skeletal system, eyes and face, with varying degrees of severity. We describe two cases illustrative of classical and focal dermal hypoplasia, noting the extensive phenotypic heterogeneity that these patients may present. So far is the second report in the literature indexed in Colombia, is a comprehensive and updated review of the literature.

Translated title of the contribution	Focal dermal hypoplasia (Goltz's syndrome): Wide phenotypic variability
Original language	Spanish
Pages (from-to)	224-229
Number of pages	6
Journal	Revista Argentina de Dermatologia
Volume	90
Issue number	4
State	Published - Oct 2009

Cite this

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title = "Hipoplasia d{\'e}rmica focal (s{\'i}ndrome de Goltz): Amplia variabilidad fenot{\'i}pica",

abstract = "The focal dermal hypoplasia (MIM \# 305600), also called mesoectodermica hypoplasia is a rare disease. It is thought to be an X-linked dominant disorder. Mainly undertakes skin, skeletal system, eyes and face, with varying degrees of severity. We describe two cases illustrative of classical and focal dermal hypoplasia, noting the extensive phenotypic heterogeneity that these patients may present. So far is the second report in the literature indexed in Colombia, is a comprehensive and updated review of the literature.",

keywords = "Focal dermal hypoplasia, Papillomatosis, Skin atrophy, X-linked dominant",

author = "Acosta, \{J. C.\} and A. Motta and Prieto, \{J. C.\}",

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T1 - Hipoplasia dérmica focal (síndrome de Goltz)

T2 - Amplia variabilidad fenotípica

AU - Acosta, J. C.

AU - Motta, A.

AU - Prieto, J. C.

PY - 2009/10

Y1 - 2009/10

N2 - The focal dermal hypoplasia (MIM # 305600), also called mesoectodermica hypoplasia is a rare disease. It is thought to be an X-linked dominant disorder. Mainly undertakes skin, skeletal system, eyes and face, with varying degrees of severity. We describe two cases illustrative of classical and focal dermal hypoplasia, noting the extensive phenotypic heterogeneity that these patients may present. So far is the second report in the literature indexed in Colombia, is a comprehensive and updated review of the literature.

AB - The focal dermal hypoplasia (MIM # 305600), also called mesoectodermica hypoplasia is a rare disease. It is thought to be an X-linked dominant disorder. Mainly undertakes skin, skeletal system, eyes and face, with varying degrees of severity. We describe two cases illustrative of classical and focal dermal hypoplasia, noting the extensive phenotypic heterogeneity that these patients may present. So far is the second report in the literature indexed in Colombia, is a comprehensive and updated review of the literature.

KW - Focal dermal hypoplasia

KW - Papillomatosis

KW - Skin atrophy

KW - X-linked dominant

UR - https://www.scopus.com/pages/publications/78449246425

M3 - Artículo

AN - SCOPUS:78449246425

SN - 0325-2787

VL - 90

SP - 224

EP - 229

JO - Revista Argentina de Dermatologia

JF - Revista Argentina de Dermatologia

IS - 4

ER -

Hipoplasia dérmica focal (síndrome de Goltz): Amplia variabilidad fenotípica

Abstract

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