cutis laxa

Cutis Laxa:

Review of literature.

Cutis Laxa:

Cutis Laxa:

 A 2-year-old male patient presented with premature aging & unusual thin and pendulous elastic skin. There was slight delay in development of milestones. On examina-tion he weighed 10 kg, had a senile facies, loose and thin skin. Face revealed an antimongoloid slant, slightly everted nostril, prominent ears, epicanthic folds. The joints were normal. There was no family history of a similar disease. On the basis of these clinical findings, a diagnosis of congenital Cutis laxa was made.

Cutis Laxa:

 Cutis laxa is an autosomal recessive or autosomal dominant disorder. This has to be differentiated from Ehler Danlos syndrome where there is joint laxity in addition to the skin changes. Pathology is not exactly known. Few studies have shown that serum copper is low and urinary excretion high, consistent with the theory that low serum copper level produces a low elastase inhibitor substance with increased destruction of elastic fibers.

Cutis Laxa:

 A rare disorder of connective tissue that causes the skin to stretch easily &hang in loose folds In cutis laxa, the elastic fibers contained in the connective tissue become loose. Sometimes only the skin is affected, but connective tissues throughout the body can be affected. Cutis laxa is usually hereditary. In some kinds of cutis laxa, the abnormal genes cause problems unrelated to connective tissues—for example, mental retardation.Cutis laxa can be mild, affecting only a person's appearance, or severe, affecting the internal organs. The skin may be very loose at birth, or it may become loose later.

Cutis Laxa: The loose skin is often most noticeable on the face, resulting in a prematurely aged appearance. The lungs, heart, intestines, or arteries may be affected with a variety of severe impairments.Although symptoms often become noticeable shortly after birth, they may begin suddenly in children and adolescents, sometimes with a fever and rash. In some people, symptoms develop gradually in adulthood.A doctor can usually diagnose cutis laxa by examining the skin. Sometimes, a skin biopsy is necessary.Treatment & PrognosisPlastic surgery can often improve the appearance of the skin, although the improvement may be only temporary. Severe impairments of the heart, lungs, arteries, or intestines can be fatal.

Cutis Laxa: Congenital redundant skin has been variously described as chalazoderma, dermatochalasis, pachydermatocele, dermatomegaly, dermatolysis, primary elastolysis, generalized elastolysis, edema elastolyticum, cutis laxa&wrinkly skin. All these terms describe loose skin hanging in different parts of the body & conferring a senile aspect to the individual.Debré et al. (1937) first used the term ‘cutis laxa with bone dystrophy’, currently called ‘cutis laxa with growth&developmental delay’ (CLGDD; OMIM 219200), to describe a rare condition characterized by redundant loose skin, pre& post-natal growth deficiency, mental retardation,large fontanels, hip dislocation& dysmorphic facial features& radiological signs consisting of osteoporosis&Wormian bones.

Cutis Laxa: Histological findings include aggregation,fragmentation& clumping of elastic fibers.Bamatter et al. (1950) created the term ‘gerodermia osteodysplastica’ (GO; OMIM 231070) to describe a prematurely aged appearance associated with skeletal findings of osteoporosis, vertebral deformity &fractures. Its main clinical features are lax /wrinkled skin, especially on the dorsum of the hands/feet, dysmorphic facial features, joint hyperextensibility, global developmental delay in many cases & radiological manifestations including Wormian bones, with intra- &interfamilial variability (Al-Gazali et al., 2001).Histological features include excessive fragmentation of the elastic fibers (Lisker et al., 1979).

Cutis Laxa:Gazit et al. (1973) coined the term ‘wrinkly skin syndrome’ to describe a condition following autosomal recessive inheritance comprising lax, wrinkled skin over the dorsum of the hands and feet, wrinkled abdominal skin in the sitting position, an increased number of palmar / plantar creases, hip dislocation, intrauterine growth retardation, growth failure/developmental delay. Histological studies describe distorted and fragmented elastic fibers (Boente et al., 1999).In 1999, Zlotogora proposed that CLGDD and WSS might represent the same disorder. More recently, the clinical overlap between WSS/GO noted.

Cutis Laxa:

Cutis Laxa:

Cutis Laxa:

Cutis Laxa:

Involutional type of entropion in a child with cutis laxaBritish Journal of Ophthalmology

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Orbital fat prolapseBritish Journal of Ophthalmology

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Orbital fat prolapseBritish Journal of Ophthalmology

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Cutis laxa with emphysema:

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Cutis laxa with face dysmorphism,cleft palate & MR:

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Cutis laxa with face dysmorphism,cleft palate & MR:

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Cutis laxa with face dysmorphism,cleft palate & MR:

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Cutis laxa

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EDS:

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1. Cutis laxa2. Turner's syndrome3. Ehlers-Danlos syndrome4. Pseudoxanthoma elasticum5. Marfan syndrome