LymphedemaV1, France, Analysis, bibRecord, 000577

Self‐healing congenital verruciform hyperkeratosis

Identifieur interne : 000577 ( France/Analysis ); précédent : 000576; suivant : 000578

Self‐healing congenital verruciform hyperkeratosis

Auteurs : Christine Léauté-Labrèze [France] ; Franck Boralevi [France] ; Mariane Cony [France] ; Jean Maleville [France] ; Didier Lacombe [France] ; Jean-Etienne Surlève-Bazeille [France] ; Alain Taïeb [France]

Source :

American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2004-10-15.

RBID : ISTEX:7BC567B7DC70F6993304FC54BCBA3F307B7CC363

Abstract

We report on an apparently previously undescribed neonatal diffuse congenital hyperkeratosis with spontaneous improvement. The child, born to consanguinous parents, presented at birth with a verrucous hyperkeratosis involving face, trunk, and limbs, but sparing palms and soles. No visceral or skeletal abnormality was associated and neurosensory status was normal. The skin condition improved dramatically during the first month of life. At age 7 years, the child was healthy with normal psychomotor development and growth. He had an abnormal curvature of nose, ulerythema ophryogenes, and large ears. The skin was moderately dry. This favorable clinical outcome led us to propose the term “regressive congenital hyperkeratosis” until further molecular characterization of this new phenotype. © 2004 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/7BC567B7DC70F6993304FC54BCBA3F307B7CC363/fulltext/pdf

DOI: 10.1002/ajmg.a.30236

Affiliations:

Links toward previous steps (curation, corpus...)

to stream Istex, to step Corpus: 003999
to stream Istex, to step Curation: 003999
to stream Istex, to step Checkpoint: 001E43
to stream Main, to step Merge: 008C23
to stream Main, to step Curation: 008961
to stream Main, to step Exploration: 008961
to stream France, to step Extraction: 000577

Links to Exploration step

ISTEX:7BC567B7DC70F6993304FC54BCBA3F307B7CC363

Le document en format XML

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<front><div type="abstract" xml:lang="en">We report on an apparently previously undescribed neonatal diffuse congenital hyperkeratosis with spontaneous improvement. The child, born to consanguinous parents, presented at birth with a verrucous hyperkeratosis involving face, trunk, and limbs, but sparing palms and soles. No visceral or skeletal abnormality was associated and neurosensory status was normal. The skin condition improved dramatically during the first month of life. At age 7 years, the child was healthy with normal psychomotor development and growth. He had an abnormal curvature of nose, ulerythema ophryogenes, and large ears. The skin was moderately dry. This favorable clinical outcome led us to propose the term “regressive congenital hyperkeratosis” until further molecular characterization of this new phenotype. © 2004 Wiley‐Liss, Inc.</div>
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   |texte=   Self‐healing congenital verruciform hyperkeratosis
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Self‐healing congenital verruciform hyperkeratosis

Self‐healing congenital verruciform hyperkeratosis

Source :

Abstract

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