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By I. Anton-Lamprecht, M.-L. Arnold (auth.), Prof.Dr. Rudolf Happle, Prof.Dr. Edouard Grosshans (eds.)

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In general, the effects of retinoids on intrauterine osteogenesis and the extent of the resulting malformations depend on the administered dose, the duration of administration and the phase of gestation revealing a craniocaudal and a proximodistal gradient due to the heterogeneous susceptibility of the individual mesenchymal, cartilage, or bone regions to these drugs [9]. Systemic application of retinoids to neonatal and adult experimental animals can induce premature epiphyseal closure, bone resorptions and fractures, inhibition of bone development, hyperostoses, and skeletal malformations [7,19].

Happle and E. Grosshans © Springer·Verlag Berlin Heidelberg 1987 Clinical and Genetic Features of the Lamellar Ichthyoses: Evidence for Three Different Types 31 Table 1. Syndromic congenital ichthyoses Diagnosis Inheritance Main features Histology Sjogren-Larsson syndrome Autosomal recessive Orthohyperkeratosis, diminished granular layer Netherton syndrome Autosomal recessive Tay syndrome Autosomal recessive KID syndrome' Autosomal dominant Neutral lipid storage disease Autosomal recessive X-linked dominant ichthyosis X-linked dominant with lethality for male affected embryos Congenital ichthyosis, mental retardation, spastic paralysis, degeneration ofthe macula ("glistening dots") At birth congenital ichthyosiform erythroderma during later life frequently ichthyosis linearis circumflexa, trichorrhexis invaginata, atopic disposition Congenital ichthyosis, mental retardation, progeroid facies, trichoschisis, and sulfur-deficient brittle hair (trichothiodystrophy) Congenital ichthyosiform erythroderma, hystrix-like hyperkeratoses, symmetrically outlined plaques over cheeks, rippled hyperkeratoses over knees, bilateral deafness, keratitis Congenital ichthyosiform erythroderma, neurosensory deafness, ataxia, nystagmus, mental impairment, muscular dystrophy, fatty liver Congenital ichthyosiform erythroderma, linear pattern of atrophoderma and hyperkeratosis in the older child, bone dysplasia with stippled epiphyses, cataracts Parakeratosis with decreased or absent granular layer, subcorneal cleft formation Orthohyperkeratosis intermingled with parakeratosis, decreased granular layer Orthohyperkeratosis with basket-weave pattern, increased granular layer, acanthosis, and papillomatosis Orthohyperkeratosis, increased granular layer, cytoplasmic vacuoles in granulocytes (blood smear) Orthohyperkeratosis, reduced granular layer, intraepidermal calcium deposition , Some authorities classify this disease in the group of erythrokeratodermia.

Salamon and Milicevic [20] described a syndrome of hair, nail, and tooth malformations in combination with lid anomalies which was thought to be recessive. Pili trianguli et canaliculi, sparse body hair, mild hypodontia, dysplasia and onychomadesis of hallux nails, and mamillar dysplasia were observed in a patient with atopic eczema and elevated immunoglobulin E [13]. The oculodentodigital syndrome II [15] is characterized by hypotrichosis, nail dysplasias, teeth anomalies, and multiple malformations of the face and hands.

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