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Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.
Am J Med Genet A. 2009 Sep; 149A(9):1935-41.AJ

Abstract

Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome is a rare disorder of hair, skin, nails, and dentition caused by mutations in the p63 gene. Pathologic changes of skin and hair in AEC syndrome have previously been described in isolated case reports. Biopsies of normal and lesional skin from 19 patients with AEC syndrome were examined by light microscopy. Hair samples from 18 patients were examined by light and scanning electron microscopy. Histopathologic changes identified within the skin biopsies from clinically unaffected skin include mild atrophy, focal orthokeratosis, and mild superficial perivascular lymphocytic dermatitis. Scattered melanophages in the superficial and deep dermis likely reflect post-inflammatory change. One patient with a unilateral eruption of monomorphic papulopustules on the chest and shoulder demonstrated an acneiform intraepidermal pustule. Examination of the hair shafts revealed atrophy and loss of melanin pigment in some of the patients. Structural abnormalities included pili torti, pili trianguli et canaliculi, and irregular indentation and shallow grooves. Skin and hair findings in AEC syndrome were found to be generally similar to those described in other ectodermal dysplasia syndromes and corroborates the few prior descriptions in AEC syndrome specifically.

Authors+Show Affiliations

Department of Pathology, Texas Children's Hospital, Baylor College of Medicine, 6621 Fannin, Houston, TX 77030, USA. mkdishop@texaschildrenshospital.orgNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19697429

Citation

Dishop, Megan K., et al. "Pathologic Changes of Skin and Hair in Ankyloblepharon-ectodermal Defects-cleft Lip/palate (AEC) Syndrome." American Journal of Medical Genetics. Part A, vol. 149A, no. 9, 2009, pp. 1935-41.
Dishop MK, Bree AF, Hicks MJ. Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am J Med Genet A. 2009;149A(9):1935-41.
Dishop, M. K., Bree, A. F., & Hicks, M. J. (2009). Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. American Journal of Medical Genetics. Part A, 149A(9), 1935-41. https://doi.org/10.1002/ajmg.a.32826
Dishop MK, Bree AF, Hicks MJ. Pathologic Changes of Skin and Hair in Ankyloblepharon-ectodermal Defects-cleft Lip/palate (AEC) Syndrome. Am J Med Genet A. 2009;149A(9):1935-41. PubMed PMID: 19697429.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. AU - Dishop,Megan K, AU - Bree,Alanna F, AU - Hicks,M John, PY - 2009/8/22/entrez PY - 2009/8/22/pubmed PY - 2010/1/6/medline SP - 1935 EP - 41 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 149A IS - 9 N2 - Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome is a rare disorder of hair, skin, nails, and dentition caused by mutations in the p63 gene. Pathologic changes of skin and hair in AEC syndrome have previously been described in isolated case reports. Biopsies of normal and lesional skin from 19 patients with AEC syndrome were examined by light microscopy. Hair samples from 18 patients were examined by light and scanning electron microscopy. Histopathologic changes identified within the skin biopsies from clinically unaffected skin include mild atrophy, focal orthokeratosis, and mild superficial perivascular lymphocytic dermatitis. Scattered melanophages in the superficial and deep dermis likely reflect post-inflammatory change. One patient with a unilateral eruption of monomorphic papulopustules on the chest and shoulder demonstrated an acneiform intraepidermal pustule. Examination of the hair shafts revealed atrophy and loss of melanin pigment in some of the patients. Structural abnormalities included pili torti, pili trianguli et canaliculi, and irregular indentation and shallow grooves. Skin and hair findings in AEC syndrome were found to be generally similar to those described in other ectodermal dysplasia syndromes and corroborates the few prior descriptions in AEC syndrome specifically. SN - 1552-4833 UR - https://wwww.unboundmedicine.com/medline/citation/19697429/Pathologic_changes_of_skin_and_hair_in_ankyloblepharon_ectodermal_defects_cleft_lip/palate__AEC__syndrome_ L2 - https://doi.org/10.1002/ajmg.a.32826 DB - PRIME DP - Unbound Medicine ER -