Gene affected: RECQL4 (with or without cytogenetic abnormalities in chromosome 8)
Inheritance: autosomal recessive
Definite diagnosis: presence of typical poikiloderma
Probable diagnosis:
(1) presence of a rash that is not typical (based on appearance, onset, spread and/or distribution) AND
(2) >= 2 associated clinical findings (see below)
Features of typical rash of poikiloderma:
(1) The rash starts during infancy.
(2) It starts as an erythema on the cheeks and face that spreads to the extensor surfaces of extremities.
(3) The trunk and abdomen are usually spared.
(4) Over time the skin becomes mottled with areas of hyper or hypopigmentation, telangiectases and punctate atrophy.
Associated clinical findings:
(1) sparse hair on eyebrows, eyelashes and/or scalp
(2) short stature, usually symmetrical
(3) gastrointestinal disorder (feeding disorder, chronic vomiting and diarrhea, other)
(4) defects in the radial ray
(5) radiographic bone abnormalities (osteopenia, absent bone, malformed bone, dysplasia, abnormal trabeculation)
(6) dental abnormalities (hypoplastic, rudimentary, absent, malformed, delayed eruption)
(7) nail abnormalities (dysplastic, poorly formed, other)
(8) hyperkeratosis on soles of feet and other sites
(9) bilateral cataracts, usually juvenile onset
(10) tumors (basal cell carcinoma, cutaneous squamous cell carcinoma, osteosarcoma)
