Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome

• Published in: American journal of medical genetics. Part A Vol. 149A; no. 9; pp. 1935 - 1941
• Main Authors: Dishop, Megan K., Bree, Alanna F., Hicks, M. John
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-09-2009; Wiley-Liss
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Adolescent; Adult; Biological and medical sciences; Biopsy; Child; Child, Preschool; Cleft Lip - diagnosis; Cleft Lip - genetics; Cleft Lip - pathology; Cleft Palate - diagnosis; Cleft Palate - genetics; Cleft Palate - pathology; Dermatology; ectodermal dysplasia; Ectodermal Dysplasia - diagnosis; Ectodermal Dysplasia - genetics; Ectodermal Dysplasia - pathology; electron microscopy; Eyelids - abnormalities; Facial bones, jaws, teeth, parodontium: diseases, semeiology; Female; hair; Hair - pathology; Hair and nails disorders; histopathology; Humans; Infant; Male; Malformations of the eye; Medical genetics; Medical sciences; Microscopy - methods; Microscopy, Electron, Scanning; Middle Aged; Non tumoral diseases; Ophthalmology; Otorhinolaryngology. Stomatology; skin; Skin - pathology; Syndrome; Young Adult; Hair; Skin disease; Cleft palate; Cleft lip; Stomatology; Change; Electron microscopy; Congenital disease; Hay-Wells syndrome; Ectodermal dysplasia; Hair (head); Anatomic pathology; Eye disease; Histopathology; Malformation; Eyelid disease; Biopsy; Ankyloblepharon; Oral cavity disease; Skin; Complex syndrome; Sweat gland disease
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.32826

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. © 2009 Wiley‐Liss, Inc.