Peroxisomal Enzyme Deficiency in X-linked Dominant Conradi—Hünermann Syndrome
The X-linked dominant Conradi—Hünermann syndrome (CHS-XD, McKusick 30295) is characterized by ichthyosiform erythroderma at birth giving way to whorled areas of hyperkeratosis, streaky follicular atrophoderma, cicatricial alopecia and coarse lustreless hair. The facies typically shows frontal bossing, a flattened nasal bridge and malar hypoplasia. Cataracts are common. Skeletal abnormalities include the transient punctate epiphyseal calcifications, asymmetric limb shortening and short stature. According to Happle (1981), CHS-XD can be readily distinguished from an autosomal dominant form of the Conradi—Hünermann syndrome (CHS-AD, McKusick 11865) because the latter does not produce whorled/streaky skin lesions or cataracts. Differentiation between CHS-XD and autosomal recessive rhizomelic chondrodysplasia punctata (RCP, McKusick 21510) presents no serious problem: patients with RCP have severe, symmetrical proximal limb shortening, marked psychomotor retardation, mild ichthyotic skin changes and they rarely survive beyond 2 years of age.
KeywordsBile Acid Phytanic Acid Nasal Bridge Autosomal Dominant Form Zellweger Syndrome
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