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Congenital Malformations and Deformations of Integument

This document summarizes several types of congenital malformations and deformations of the integument or skin including various forms of ichthyosis, epidermolysis bullosa, pigmentation disorders, ectodermal dysplasias, hyperkeratosis, nevi, and other conditions such as Kindler syndrome. Specific genetic skin diseases mentioned include ichthyosis vulgaris, congenital ichthyosiform erythroderma, Netherton syndrome, epidermolysis bullosa simplex, junctional epidermolysis bullosa, incontinentia pigmenti, hypohidrotic ectodermal dysplasia, Darier's disease, port-wine stain, and Kindler

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44 views1 page

Congenital Malformations and Deformations of Integument

This document summarizes several types of congenital malformations and deformations of the integument or skin including various forms of ichthyosis, epidermolysis bullosa, pigmentation disorders, ectodermal dysplasias, hyperkeratosis, nevi, and other conditions such as Kindler syndrome. Specific genetic skin diseases mentioned include ichthyosis vulgaris, congenital ichthyosiform erythroderma, Netherton syndrome, epidermolysis bullosa simplex, junctional epidermolysis bullosa, incontinentia pigmenti, hypohidrotic ectodermal dysplasia, Darier's disease, port-wine stain, and Kindler

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Dihas Aesthetics Antiaging
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© Attribution Non-Commercial (BY-NC)
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Congenital malformations and deformations of integument (Q80-Q82, 757.0-757.

3) Skin
disease/
genodermatosis
ADIchthyosis vulgaris
Congenital ichthyosiform erythroderma: Epidermolytic
hyperkeratosis · Ichthyosis lamellaris (Harlequin type
Congenital ichthyosis AR ichthyosis)
Netherton syndrome · Zunich-Kaye syndrome · Sjögren-
Larsson syndrome
XRX-linked ichthyosis
Epidermolysis bullosa simplex · Junctional epidermolysis bullosa ·
Epidermolysis bullosa
Epidermolysis bullosa dystrophica
Pigmentation disorder Incontinentia pigmenti  · Urticaria pigmentosa · Lelis syndrome
DNA repair-deficiency Bloom syndrome · Rothmund-Thomson syndrome · Xeroderma
disorder pigmentosum
Naegeli syndrome/Dermatopathia pigmentosa reticularis · Hay-
Ectodermal dysplasia Wells syndrome · Hypohidrotic ectodermal dysplasia · Focal
dermal hypoplasia · Ellis-van Creveld syndrome
Hyperkeratosis/keratinopath Meleda disease · Keratosis pilaris · Darier's disease · Dyskeratosis
y congenita · Lelis syndrome
Nevus Capillary hemangioma · Port-wine stain (Nevus flammeus nuchae)
Familial cutaneous papillomatosis · Kindler syndrome · cadherin
Other (EEM syndrome) · immune system (Hereditary lymphedema,
Mastocytosis) · Hailey Hailey · Birthmark

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