Abstract
In P63-related ectodermal dysplasias (ED), the clinical characteristics focus on extra-cutaneous manifestations. The dermatological phenotype remains incompletely characterized. We report the dermatological features of 22 patients carrying a TP63 mutation. Erosions, erythroderma and pigmentary anomalies are characteristics of P63-related ED. Our data suggest that patients might be classified into two major P63-related disorders: AEC and EEC. RHS and ADULT represent mild AEC and EEC forms, respectively.
Keywords:
P63-related disorders; erosions; erythroderma; pigmentary disorders.
© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
MeSH terms
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Adolescent
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Adult
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Child
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Child, Preschool
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Cleft Lip / genetics
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Cleft Palate / genetics
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Dermatitis, Exfoliative / genetics
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Dermatoglyphics
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Ectodermal Dysplasia / diagnosis
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Ectodermal Dysplasia / genetics*
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Eye Abnormalities / genetics
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Eyelid Diseases / congenital
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Eyelid Diseases / genetics
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Female
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Hair / abnormalities
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High-Throughput Nucleotide Sequencing
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Humans
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Infant
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Male
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Nipples / abnormalities
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Pigmentation Disorders / genetics
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Polychondritis, Relapsing / genetics
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Symptom Assessment
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Tooth Abnormalities / genetics
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Transcription Factors / deficiency*
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Transcription Factors / genetics
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Tumor Suppressor Proteins / deficiency*
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Tumor Suppressor Proteins / genetics
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Urogenital Abnormalities / genetics
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Young Adult
Substances
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TP63 protein, human
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Transcription Factors
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Tumor Suppressor Proteins
Supplementary concepts
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Cryptophthalmos, Unilateral or Bilateral, Isolated