Netherton syndrome

Netherton syndrome Classification and external resources
ICD-10	Q80.8 (ILDS Q80.870)
ICD-9	757.1
OMIM	256500
DiseasesDB	30791
eMedicine	derm/431

Netherton syndrome is a severe, autosomal recessive^[1] form of ichthyosis associated with SPINK5.^[2]

Netherton syndrome has an autosomal recessive pattern of inheritance.

[edit] Eponym

It is named for E.W. Netherton.^[3]

^ Chao SC, Richard G, Lee JY (2005). "Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5". Br J Dermatol. 152 (1): 159-165. PMID 15656819.
^ Chavanas S, Bodemer C, Rochat A, et al (June 2000). "Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome". Nat Genet. 25 (2): 141-142. doi:10.1038/75977. PMID 10835624.
^ Netherton, E. W. A unique case of trichorrhexis nodosa: 'bamboo hairs.'. Arch. Derm. 78: 483-487, 1958.

v • d • e Congenital malformations and deformations of integument (Q80-Q84, 757)

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

Other skin disease	Hereditary lymphedema - Mastocytosis - Meleda disease - Naegeli syndrome - Urticaria pigmentosa - Incontinentia pigmenti - Ectodermal dysplasia - EEM syndrome - Hay-Wells syndrome - Kindler syndrome - Port-wine stain - Cutis laxa - Darier's disease - Pseudoxanthoma elasticum - Keratosis pilaris DNA repair-deficiency disorder: Bloom syndrome - Rothmund-Thomson syndrome - Xeroderma pigmentosum

Nail disease	Leukonychia - Pachyonychia congenita

Malformations of breast	Amastia - Accessory breast - Athelia - Supernumerary nipple - Micromastia

Hair disease	Monilethrix - Sabinas brittle hair syndrome

see also non-congenital (L, 680-709)

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