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Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly: a new syndrome?
Pediatr Dermatol. 1992 Sep; 9(3):293-7.PD

Abstract

Aplasia cutis congenita (ACC) is a skin disorder in which localized or widespread areas of skin are absent at birth. It has been associated with numerous anomalies and recognizable syndromes. We report a newborn infant with ACC of the scalp, multiple facial abnormalities including cleft palate but not cleft lip, hypoplasia of the distal phalanges of the hands, ectrodactyly of the feet, and epidermolysis bullosa of the extremities and lower trunk. Although this patient had some features that overlapped with ectrodactyly-ectodermal dysplasia-clefting syndrome, the absence of cleft lip and presence of additional skin abnormalities made that diagnosis unlikely. This could represent a newly recognized syndrome of numerous malformations in which ACC is associated with a constellation of previously undescribed structural anomalies.

Authors+Show Affiliations

Division of Dermatology, University of Louisville, KY 40292.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1488384

Citation

Jones, E M., et al. "Aplasia Cutis Congenita, Cleft Palate, Epidermolysis Bullosa, and Ectrodactyly: a New Syndrome?" Pediatric Dermatology, vol. 9, no. 3, 1992, pp. 293-7.
Jones EM, Hersh JH, Yusk JW. Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly: a new syndrome? Pediatr Dermatol. 1992;9(3):293-7.
Jones, E. M., Hersh, J. H., & Yusk, J. W. (1992). Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly: a new syndrome? Pediatric Dermatology, 9(3), 293-7.
Jones EM, Hersh JH, Yusk JW. Aplasia Cutis Congenita, Cleft Palate, Epidermolysis Bullosa, and Ectrodactyly: a New Syndrome. Pediatr Dermatol. 1992;9(3):293-7. PubMed PMID: 1488384.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly: a new syndrome? AU - Jones,E M, AU - Hersh,J H, AU - Yusk,J W, PY - 1992/9/1/pubmed PY - 1992/9/1/medline PY - 1992/9/1/entrez SP - 293 EP - 7 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 9 IS - 3 N2 - Aplasia cutis congenita (ACC) is a skin disorder in which localized or widespread areas of skin are absent at birth. It has been associated with numerous anomalies and recognizable syndromes. We report a newborn infant with ACC of the scalp, multiple facial abnormalities including cleft palate but not cleft lip, hypoplasia of the distal phalanges of the hands, ectrodactyly of the feet, and epidermolysis bullosa of the extremities and lower trunk. Although this patient had some features that overlapped with ectrodactyly-ectodermal dysplasia-clefting syndrome, the absence of cleft lip and presence of additional skin abnormalities made that diagnosis unlikely. This could represent a newly recognized syndrome of numerous malformations in which ACC is associated with a constellation of previously undescribed structural anomalies. SN - 0736-8046 UR - https://www.unboundmedicine.com/medline/citation/1488384/Aplasia_cutis_congenita_cleft_palate_epidermolysis_bullosa_and_ectrodactyly:_a_new_syndrome L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0736-8046&date=1992&volume=9&issue=3&spage=293 DB - PRIME DP - Unbound Medicine ER -