By Vazken M. der Kaloustian M.D., Amal K. Kurban M.D. (auth.)
The organs of the physique such a lot obtainable to exam are the attention and the outside and its appendages. for this reason, it really is stated, ophthalmological genetics is in such flourishing strong well-being. Dermatological genetics doesn't appear to have benefited quite a bit from the surface being at the outdoor, and there are yet few dermatological opposite numbers to the volumes of Sorsby, Waardenburg, Franceschetti and Franr,;ois, between others. yet due to the transforming into curiosity in scientific genetics, and the fashionable subtle tech niques of molecular, biochemical, and ultrastructural exam, der matology is commencing to trap up, because the visual appeal of this quantity testifies. as a result of the turning out to be physique of data and the heightened wisdom of genetics through either sufferers and physicians, dermatologists not just should be requested extra frequently in regards to the inheritance of epidermis stipulations they diagnose yet more and more could have the chance to diagnose a number of inborn mistakes and syndromes by way of their dermatologic manifestations. nevertheless, syndromologists, scientific geneticists, and physicians are always seeing sufferers with diagnostic clues within the epidermis that they have to be ready to enjoy. For either teams this booklet might be a brand new and helpful resource of aid. Spring 1979 F. CLARKE FRASER, Ph.D., M.D.
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Additional resources for Genetic Diseases of the Skin
Inheritance. Autosomal dominant suspected. Treatment. There is no specific treatment. Palmoplantar Keratodermias Fig. 47. Diffuse palmoplantar keratodermia. Note the involvement of the mother's palms and the sharp demarcation of the soles of the child Fig. 48. Diffuse palmoplantar keratodermia. Involvement of the palms Fig. 49. Diffuse palmoplantar keratodermia 43 44 Keratoma Hereditaria Mutilans (Mutilating Keratodermia, Vohwinkel Syndrome, Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes) Clinical Presentation.
103,266-271 (1971) 4. : Netherton's syndrome and ichthyosis linearis circumflexa. Psoriasiform ichthyosis. Arch. Derm. 100, 550-558 (1969) Clinical Presentation. The skin changes are those of ichthyosiform erythrodermia (lamellar ichthyosis) (Figs. 38). These changes are associated with marked mental deficiency and cerebral spastic diplegia (of Little disease type). The spasticity. is more marked in the lower extremities with partial contractures (scissor gait). Other features that may be present are dental and osseous dysplasia [3,4], epilepsy [2,5], retinal macular degeneration [2,5,6], aminoaciduria , dysarthria and dysphonia [2,4], hypertelorism , dermatoglyphic abnormalities , and exudative enteropathy .
R. In : The clinical delineation of birth defects. Bergsma, D. ), Vol. 8, pt. XII, pp. 243-244. Baltimore: Williams & Wilkins Co. 29 Figs. 27. Epidermolytic hyperkeratosis. 27 Figs. 29. Epidermolytic hyperkeratosis. Thick brown scales. 32 Figs. 31. Ichthyosiform erythrodermia. Note centrally attached coarse scales Fig. 32. Ichthyosiform erythrodermia. Ectropion Fig. 33. Congenital lamellar ichthyosis. (Courtesy of Dr. e. 33 32 Harlequin Fetus (Ichthyosis Fetalis, Keratome Malignum, Ichthyosis Congenita) This probably represents a more severe form of ichthyosiform erythrodermia.