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Koraxitrachitic Syndrome: A Syndromic Form of Self-Healing Collodion Baby with Residual Dappled Atrophy of the Derma
Verloes, Alain; Hermanns-Le, T.; Lesenfants, S. et al.
1999In American Journal of Medical Genetics, 86 (5), p. 454-8
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Abstract :
[en] We report on a child with a generalized skin disorder associated with other minor anomalies. At birth, the child presented as a collodion baby, with patchy erythema, generalized irregular dermal atrophy, alopecia, absent eyelashes and eyebrows, and conjunctival pannus. He also had hypertelorism, prominent nasal root, large mouth, micrognathia, brachydactyly, syndactyly involving all interdigital spaces, and camptodactyly of fingers III-V. The hyperkeratotic membrane thinned progressively, leaving a mottled reticulated skin atrophy, with patchy areas of yellowish hyperpigmentation and papyraceous areas. Hair and nails were dystrophic. Mental development was borderline normal. The histological hallmarks of the skin manifestations combined orthokeratotic hyperkeratosis and marked atrophy of the dermis. The dermal extracellular matrix was immature, and factor XIII-a positive dendrocytes were rare and globular rather than dendritic. We frame as a hypothesis that the disease is due to or associated with a defect in maturation of a subset of dermal dendrocytes during fetal life. This entity may be designed as the koraxitrachitic syndrome (kappaomicronrhoalphaxi:grapnel- taurhoalphachiiotatauepsilonsigma: roughness) Copyright 1999 Wiley-Liss, Inc.
Disciplines :
Human health sciences: Multidisciplinary, general & others
Ophthalmology
Author, co-author :
Verloes, Alain ;  Université de Liège - ULiège > Génétique générale et humaine
Hermanns-Le, T.
Lesenfants, S.
Lombet, Jacques ;  Université de Liège - ULiège > Département des sciences cliniques > Pédiatrie
Lamotte, P. J.
Crevecoeur-Liegeois, C.
Duchesne, Bernard ;  Centre Hospitalier Universitaire de Liège - CHU > Ophtalmologie
Pierard, Gérald ;  Université de Liège - ULiège > Département des sciences cliniques > Dermatopathologie
Language :
English
Title :
Koraxitrachitic Syndrome: A Syndromic Form of Self-Healing Collodion Baby with Residual Dappled Atrophy of the Derma
Publication date :
29 October 1999
Journal title :
American Journal of Medical Genetics
ISSN :
0148-7299
Publisher :
Wiley-Liss Inc, United States - New Jersey
Volume :
86
Issue :
5
Pages :
454-8
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 29 January 2021

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