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Heterozygous Mutation in the SAM Domain of p63 Underlies Rapp-Hodgkin Ectodermal Dysplasia

¹ Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand;
² Department of Cell and Molecular Pathology, St John’s Institute of Dermatology, The Guy’s, King’s College and St Thomas’ Hospitals’ Medical School, St Thomas’ Hospital, Lambeth Palace Road, London SE1 7EH, UK;
³ Department of Dermatology, Kurume University School of Medicine, 67 Asahimachi, Kurume, Fukuoka 830-0011, Japan; and
⁴ Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand;

View larger version (169K): [in this window] [in a new window]   Figure 1. Clinical pictures of the patient. (a) Patient at 8 yrs old. Note repaired cleft lip and palate, microsomia, sparse hair, and diffuse dermatitis of the skin. (b) Patient at 14 yrs old. (c) Keratoderma of palms at 8 yrs. (d) Supernumerary nipple. (e) Hypoplastic scapulae. (f) Keratoderma of palms at 14 yrs. Note improvement of the condition as he aged. (g) Congenitally missing mandibular left central incisor. Enamel hypoplasia of the mandibular right lateral incisor and left canine.

View larger version (154K): [in this window] [in a new window]   Figure 2. Histology of palmar skin shows acanthosis and hyperkeratosis. There is a mild upper dermal interstitial chronic inflammatory cell infiltrate and exocytosis of lymphocytes within the superficial dermis. Most notably, in the upper spinous cell layers there are numerous apoptotic keratinocytes (seen at higher magnification in the inset) with keratinocyte separation (acantholysis) and disruption of the granular cell layer. Bar = 100 microns.

View larger version (23K): [in this window] [in a new window]   Figure 3. Nucleotide sequencing of p63 exon 13 from normal (b) and the affected patient (a) shows a heterozygous T>C point mutation that converts a serine residue (TCC) to proline (CCC), designated as S545P.

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