Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation

The p63 protein is a member of a highly-conserved family of transcription factors (p53/p73) which play a pivotal role in ectodermal and epidermal homeostasis as well as orofacial and limb development [1–4]. Novel data suggest its role in the control of senescence, fertility, hearing, neurodevelopment and even cardiogenesis [5–10]. The gene coding for p63 is located on chromosome 3q28 and consists of 14 exons [11]. It exerts its biologic functions through at least ten different protein isoforms, which are synthesized as a consequence of transcription from alternate promoters (TA and ΔN) and alternative splicing (α-, β-, γ-, δ- and ε-) [12]. The p63 protein is expressed in the nuclei of keratinocytes (predominantly basal ones) of stratified epithelia (skin, tonsils, esophagus and ectocervix), transitional epithelia (urinary tract), simple epithelia (bronchial tree, acini of the breast and prostate, sebaceous and sweat glands), female and male germlines and also to some extent in the germinal centers of lymph nodes [13, 14]. Investigations on p63-deficient animals and humans bearing mutations in p63 shed light on cutaneous morphogenesis and pathophysiology and revealed p63 as a sentinel of epidermal commitment and differentiation, cell-cell adhesion and basement membrane formation [1, 2]