Naegeli syndrome

Naegeli syndrome
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Naegeli syndrome Classification and external resources
OMIM	161000
DiseasesDB	29767
eMedicine	derm/736

Naegeli syndrome (or Naegeli-Franceschetti-Jadassohn syndrome)^[1] is a rare autosomal dominant^[2] form of ectodermal dysplasia, characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth and hyperkeratosis of the palms and soles. One of the most striking features is the absence of fingerprint lines on the fingers.

Naegeli syndrome is similar to Dermatopathia pigmentosa reticularis,^[3] both of which are caused by a specific defect in the keratin 14 protein.

Naegeli syndrome has an autosomal dominant pattern of inheritance.

Eponym

It was named after Oskar Naegeli.^[4]

References

^ Online 'Mendelian Inheritance in Man' (OMIM) 161000
^ Lugassy, J; Itin, P; Ishida-Yamamoto, A; Holland, K; Huson, S; Geiger, D; Hennies, Hc; Indelman, M; Bercovich, D; Uitto, J; Bergman, R; Mcgrath, Ja; Richard, G; Sprecher, E (Oct 2006). "Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14". American journal of human genetics 79 (4): 724–30. doi:10.1086/507792. PMID 16960809.
^ Schnur R, Heymann W (1997). "Reticulate hyperpigmentation". Semin Cutan Med Surg. 16 (1): 72–80. doi:10.1016/S1085-5629(97)80038-7. PMID 9125768.
^ synd/1417 at Who Named It

v • d • e

Congenital malformations and deformations of integument (Q80-Q84, 757)

Skin disease

Congenital ichthyosis	Epidermolytic hyperkeratosis - Harlequin type ichthyosis - Ichthyosis lamellaris - Ichthyosis vulgaris - Netherton syndrome - X-linked ichthyosis - Zunich-Kaye syndrome

Epidermolysis bullosa	Epidermolysis bullosa simplex - Epidermolysis bullosa dystrophica

Pigmentation disorder	Incontinentia pigmenti - Urticaria pigmentosa

DNA repair-deficiency disorder	Bloom syndrome - Rothmund-Thomson syndrome - Xeroderma pigmentosum

Ectodermal dysplasia	Naegeli syndrome/Dermatopathia pigmentosa reticularis - Hay-Wells syndrome - Hypohidrotic ectodermal dysplasia - Focal dermal hypoplasia

Other	Familial cutaneous papillomatosis - Kindler syndrome - Port-wine stain - elastic fiber (Cutis laxa, Pseudoxanthoma elasticum) - hyperkeratosis/keratinopathy (Meleda disease, Keratosis pilaris, Darier's disease, Dyskeratosis congenita) - cadherin (EEM syndrome) - immune system (Hereditary lymphedema, Mastocytosis) - Hailey Hailey

Skin appendages

Nail disease	Leukonychia - Pachyonychia congenita

Hair disease	Monilethrix - Sabinas brittle hair syndrome

see also non-congenital, neoplasia

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