| 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][3]:484
Contents |
Presentation
Most babies who have it are "scalded-looking" at birth and are very slow to gain weight all through their life but especially in the first year. As a result they may well be kept in hospital for a few weeks or even months. The cracking/scaling of their skin causes them to lose water, heat and proteins and so care in incubators of these babies is essential along with extra fluids to compensate.
Patients with Netherton's Syndrome also tend to have fragile and spiky hair, medically called trichorrhexis invaginata, which often grows very slowly. All body hair is affected by this (including eyebrows/eyelashes etc). Microscopic examination of the hairs will reveal bamboo-like growths on the shaft of the hair. This will clinch the diagnosis if a physician is unsure and these swellings are also the reason for the brittleness of the hair. However, the absence of bamboo hair does not rule out the diagnosis - trichorrhexis invaginata sometimes does not show up until 6 months of age. Trichoscopy may be used to facilitate the diagnosis[1].
Allergies to nuts and fish are also common amongst affected people but they are not always present in every case.
Affected people are usually lighter and shorter than "normal" and may not do very well in sporting activities.
The usual cutaneous manifestation of Netherton syndrome is ichthyosis linearis circumflexa.[3]
Genetics
This condition is usually associated with a mutation the gene SPINK5.[2] which is a gene on the 5th chromosome. The condition is said to be passed on in an "autosomal recessive" pattern because it requires a mutated gene to be passed on from both mother and father for the condition to show. It may be that both parents do not suffer from the condition because they have one normal gene which still means they will have normal skin - These are named carriers of the gene/condition.
Treatment
There is no known cure at the moment but there are several things that can be done to relieve the symptoms. moisturising products are very helpful to minimise the scaling/cracking and anti-infective treatments are useful when appropriate because the skin is very susceptible to infection. Extra protein in the diet during childhood is also beneficial to replace that which is lost through the previously mentioned "leaky" skin.
- Steroid and retinoid products have been proven ineffective against Nethertons syndrome and may in fact make things worse for the patient.
Eponym
It is named for E.W. Netherton.[4]
References
- ^ 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. doi:. PMID 15656819.
- ^ a b 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:. PMID 10835624.
- ^ a b Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
- ^ Netherton, E. W. A unique case of trichorrhexis nodosa: 'bamboo hairs.'. Arch. Derm. 78: 483-487, 1958.
External links
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