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At a glance

Connective tissue disease resulting in early aging processes of the skin and generalized osteopenia with predisposition to fractures. The most important feature includes wrinkle skin over hands and feet. Other features include joint hyperlaxity, bone fragility, muscle hypotonia, hip dislocation, osteoporosis, developmental delay, intrauterine growth retardation, sunken eyes, microcorneas, and failure to thrive.

Synonyms

Wrinkly Skin Syndrome, Bamatter Syndrome; Bamatter-Franceschetti-Klein-Sierro Syndrome; Geroderma Osteodysplastica Hereditaria; Hereditary Geroderma Osteoplastica; Osteoplastic Geroderma; Premature Senility Syndrome; Walt Disney Dwarfism Syndrome (“Snow White and the Seven Dwarfs”).

History

Familial connective tissue disorder first described in 1950 in a Swiss family by Frederic Bamatter, a Swiss pediatrician.

Incidence

Rare; approximately 50 cases reported in the literature, mainly in endogamous Mennonite religious population.

Genetic inheritance

Inheritance is X-linked recessive with occasional manifestations in females. Less severe in female heterozygotes is reported.

Pathophysiology

Unknown. Altered activity of the activator protein1 (AP-1) in fibroblasts may lead to relevant changes in the extracellular matrix composition, which could explain the possible correlation between some of the defects shown in these patients.

Diagnosis

Characteristic skin changes suggesting precocious aging and osseous changes, including osteoporosis and multiple lines similar to growth rings of trees. Facies shows a “droopy, jowled, prematurely aged appearance”—linked to the dwarfs in Walt Disney’s “Snow White and the Seven Dwarfs”—hence the synonym. Metaphyseal pegs indenting the epiphyses of long bones may represent a primary, age-dependent (only visible at 4-5 years of age) alteration of bone shape which could be used as a new bone marker specific to the condition.

Clinical aspects

Premature skin aging of the face and dorsum of hands and feet is recognizable from birth. The skin appears thin and creased with reduced turgidity and elasticity, more marked over the hands and feet. Generalized joint hyperextensibility and severe osteoporosis usually are present. Intelligence is normal. Presentation with hypotonia in childhood is possible. Bones are osteoporotic and susceptible to fracture, particularly the vertebrae, which may show compression with anterior wedging and biconcavity. Dental and facial abnormalities, including maxillary hypoplasia and mandibular prognathism, have been described.

Precautions before anesthesia

No known reports in the anesthetic literature. Obtain full history of motor milestones, previous complications (especially following surgeries), and familial-related disorders. Assess potential airway difficulties because of dental, maxillary, and mandibular abnormalities.

Anesthetic considerations

Vascular access may be difficult because of laxity of the subcutaneous tissues. Careful positioning of patients is required because of osteoporotic bones (danger of fractures, particularly the vertebrae). Spontaneous breathing should be maintained until the airway has been secured.

Pharmacological implications

No known implications with this ...

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