Gerodermia osteodysplastica hereditaria: Report of three affected brothers and literature review

Abstract

Gerodermia osteodysplastica hereditaria was diagnosed in three Mexican brothers 6, 7, and 8 years old, respectively, who had the distinct facial appearance with sagging cheeks, premature wrinkling of the skin of face, abdomen, and dorsum of hands and feet; malocclusion, span greater than height; hyperextensibility; winging of the scapulae; stooped posture with kyphoscoliosis; protuberant abdomen; and pes planus. Radiologically they had generalized osteoplorosis, platyspondily due to multiple compression fractures, pseudoepiphyses of second metacarpals, and dislocated hips. Three other families with a total of 14 affected individuals have been reported. Inter- and intrafamilial variability can be recognized, particularly regarding the tendency to fractures, upper:lower segment ratio abnormalities, and results of skin biopsies, which have shown fragmentation of the elastic fibers in some cases (including the present family) and not in others. Although inheritance was considered to be X-linked recessive in the first reported family, an analysis of that pedigree together with those of the other reported families, including the present one, suggests that gerodermia osteodrysplastica is inherited in an autosomal recessive manner.

Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review

“…Several adults have been reported as having normal intelligence and the degree of neurological impairment, when present, seems to vary from learning disabilities (Al-Gazali et al, 2001) to severe mental retardation (van Maldergem et al, 1989). Hyperactivity has also been reported in GO patients (Lisker et al, 1979). Febrile seizures are frequent and there is at least one report of a patient with epilepsy (Patton et al, 1987).…”

“…There were inconstant reports in the literature of the following anomalies: dystrophic nails (Patton et al, 1987); hypoplastic nipples (Sakati et al, 1983;Ogur et al, 1990); cleft lip (Patton et al, 1987); bilateral coloboma of the macula (George et al, 1998); microcornea; arcus senilis; pseudo epiphyses of the second metacarpal bones (Lisker et al, 1979); and unilateral absence of the pisiform bone (Boreux, 1969).…”

“…Its main clinical features are lax and wrinkled skin, especially on the dorsum of the hands and feet, dysmorphic facial features, joint hyperextensibility, global developmental delay in many cases and radiological manifestations including Wormian bones, with intra-and interfamilial variability (Al-Gazali et al, 2001). Histological features include excessive fragmentation of the elastic fibers (Lisker et al, 1979). Gazit et al (1973) coined the term 'wrinkly skin syndrome' (WSS; OMIM 278250) to describe a condition following autosomal recessive inheritance and comprising lax, wrinkled skin over the dorsum of the hands and feet, wrinkled abdominal skin in the sitting position, an increased number of palmar and plantar creases, hip dislocation, intrauterine growth retardation, growth failure and developmental delay.…”

A Case of Gerodermia Osteodysplastica Diagnosed by Recurrent Pathologic Fractures

“…Radiologic changes such as cone-shaped epiphyses and metaphyseal peg in addition to low BMD and skeletal abnormalities support the diagnosis of GO [6]. A histopathology finding of elastic fiber fragmentation in the affected skin can be also used to confirm the diagnosis [7].…”

A Case of Cutis Pleonasmus

“…Moreover, pseudoxanthoma elasticum is a hereditary disorder with extracutaneous manifestation of angioid streaks, claudification, hypertension and angina 11 . Although de Barsey syndrome, SCARF syndrome and geroderma osteodysplastica may present generalized cutis laxa, they are usually accompanied by retarded psychomotor development, ocular and skeletal abnormalities [12][13][14] . To prevent body contour deformity, proper weight loss is recommended.…”