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

Abstract

Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy. Parental consanguinity in both families and a more pronounced severity of the neurological disease in the male patient were present. Both patients were diagnosed in infancy as having De Barsy syndrome, but clinical follow-up revealed that the clinical picture was compatible with the diagnosis of cutis laxa with growth and developmental delay (CLGDD), gerodermia osteodysplastica (GO) and wrinkly-skin syndrome (WWS). It has recently been suggested that cutis laxa with growth and developmental delay, gerodermia osteodysplastica and wrinkly skin syndrome are the same condition. A review concerning this diagnosis is also presented.

Autosomal recessive cutis laxa syndrome revisited

“…Findings like intrauterine growth retardation, hip dislocation, pigeon breast, scoliosis, inguinal hernia and flat feet are common. 12,17 The wrinkled skin syndrome (WSS, MIM 278250 18,19 ) appears to be the mild phenotypic manifestation of ARCL type II. The skin biopsy is not pathognomonic for cutis laxa in most WSS patients.…”

“…The frequency of gerodermia osteodysplastica and XRCL appears to be comparable with the frequency of ADCL based on the number of reports. 10,18,22,23 It is difficult to assess the frequency of XLCL due to the phenotypic overlap with Menkes Syndrome. 9 In addition to these numbers several patients have been reported with a syndromic appearance associated with cutis laxa.…”

Type II autosomal recessive cutis laxa: Report of another patient and molecular studies concerning three candidate genes

“…The present study analyzed DNA from three unrelated patients, two males and a female, presenting with ARCL type II for mutations in LOX , FBLN4 and FBLN5 genes. Patients 1 and 2 have been previously reported in the literature [Steiner et al, 2005], and Patient 3 is described below.…”

“…ARCL type II, also called cutis laxa with growth and developmental delay or cutis laxa with bone dystrophy (OMIM 219200), is a rare disorder characterized by pre‐ and postnatal growth deficiency, mental retardation of mild to moderate degree, large fontanels, hip dislocation, Wormian bones, dysmorphic facial features, scoliosis and osteoporosis [Agha et al, 1978; Allanson et al, 1986; Patton et al, 1987; Imaizumi et al, 1994; Steiner et al, 2005]. Histological findings include aggregation, fragmentation and clumping of elastic fibers [Sakati et al, 1983; Steiner et al, 2005]. It shares many similarities with ARCL type I, which also has histological abnormalities involving the elastic fibers.…”

“…It shares many similarities with ARCL type I, which also has histological abnormalities involving the elastic fibers. There is debate as to whether ARCL type II is the same condition as reports of the “wrinkly skin syndrome” and gerodermia osteodysplastica, but this will remain unclear until the molecular basis is understood [Zlotogora, 1999; Al‐Gazali et al, 2001; Steiner et al, 2005; Gupta and Phadke, 2006; Boente et al, 2006].…”