Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature.
Gerodermia osteodysplastica and wrinkly skin syndrome are rare autosomal recessive disorders. Due to the many phenotypic similarities in these two conditions, it has been proposed that they represent the same disorder. Both conditions are well delineated in the genetic literature, but despite skin involvement being a striking feature, they are rarely reported in dermatology journals. In this report, we describe three Arab children from two consanguineous families who exhibit overlapping features of gerodermia osteodysplastica and wrinkly skin syndrome. All the patients had dysmorphic facial features, wrinkled skin more marked on the hands and feet, hyperextensible joints, intrauterine growth retardation, developmental delay, congenital dislocation of hips, and osteoporosis. Our observations also support the contention that gerodermia osteodysplastica and wrinkly skin syndrome have the same clinical spectrum; however, this needs to be confirmed at the molecular level.
Nanda
Arti
A
As'ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait. artinanda@hotmail.com
Alsaleh
Qasem A
QA
Al-Sabah
Humoud
H
Marzouk
Emad E
EE
Salam
Amr M A
AM
Nanda
Mousumee
M
Anim
Jehoram T
JT
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D019588:Aging, Premature / Q000235:genetics / Q000473:pathology*; D001707:Biopsy, Needle; D002675:Child, Preschool; D003241:Consanguinity; D003483:Cutis Laxa / Q000235:genetics / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007593:Joint Instability / Q000235:genetics / Q000473:pathology; D008297:Male; D010024:Osteoporosis / Q000235:genetics / Q000473:pathology; D011379:Prognosis; D012720:Severity of Illness Index; D012868:Skin Abnormalities / Q000473:pathology*; D015595:Skin Aging; D013577:Syndrome