Congenital poikiloderma with traumatic bulla formation, anhidrosisi, and keratoderma.
A 14-year-old boy with congenital poikiloderma had anhidrosis, palmoplantar-pitted keratoderma, traumatic bulla formation, and defective dentition, but no abnormalities of the hair, nails, or eyes. This patient was similar in some respects to others reported as having dermatopathia pigmentosa reticularis, the Franceschetti-Jadassohn syndrome, the Mendes da Costa syndrome, and acrokeratotic poikiloderma.
D000293:Adolescent; D006801:Humans; D007007:Hypohidrosis / Q000150:complications* / Q000473:pathology; D008297:Male; D011038:Rothmund-Thomson Syndrome / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000150:complications*