NETHERTON'S SYNDROME

By Gary M. White, MD


Netherton's syndrome (NS) is a rare, autosomal recessive disorder caused by a mutation in the SPINKS5 gene that leads to the triad of ichthyosis linearis circumflexa, trichorrhexis invaginata and an atopic diathesis.

Clinical

Congenital, exfoliative erythroderma (but not a collodion baby) is the first sign of this disorder. The ichthyosis linearis circumflexa (double-edged scale with a serpiginous border) is usually not seen until after 2 years of age. The diagnosis is confirmed or made by the finding of trichorrhexis invaginata (bamboo hair) of scalp, vellus or eyelash hair. Examine numbers hairs from several areas as often only 20-50% are affected. Infants may have failure to thrive, hypernatremia, diarrhea, recurrent sinopulmonary infections, sepsis, and renal problems. Hairs at all body sites may be affected. Scalp hair may be dry, lusterless, facile and poorly manageable. Areas subject to friction may become bald. A golf tee hair representing the proximal part of the invaginate node may be the only microscopic sign. An atopic diathesis completes this triad of eczema, bamboo hair and and ichthyosiform dermatosis.

Rarely, patients may present with subcorneal pustules [PD 2016;33;222].

Treatment

Emollients and intermittent topical steroids are helpful. However, increased systemic absorption of topically applied medications due to impaired barrier function can be problematic. For example, Cushing's syndrome has been reported from daily topical steroid use. Netherton's Syndrome is singled out as a disease for which Elidel and tacrolimus are NOT to be used due to the concern for increased absorption. However, there are reports of benefit with use of more dilute concentrations of topical tacrolimus [International J Dermatol 2007; 46: 290].

NS has recently been treated successfully with intravenous immunoglobulin (IVIG). The TNF-α inhibitor infliximab has also been reported to be beneficial for NS [PD 2016;33;222].

A 19-year-old woman was treated with infliximab infusions at a dose of 5 mg/kg in weeks 0, 2, and 6 and continued every other 8 weeks. Clinical improvement was observed after the second infusion, with fewer inflammatory lesions, desquamation, and pruritus. At week 22, the skin was almost cleared of inflammatory lesions, and the patient mentioned stronger and longer hair [JAAD Case Report 2017;3;550].

Narrowband UVB may be helpful. Topical retinoids may be tried but irritation is a problem. Other reported treatments include topical calcipotriene and oral retinoids.

For the recurrent infections, an infectious disease specialist should be consulted. Some patients have done well with prophylactic antibiotics.

References

A 24-year-old woman presents with redness and scale all over the body since birth. She was using topical steroids BID and had developed weight gain and stria (Cushing's syndrome due to excessive absorption of steroid). In addition, she reported coarse, brittle hair. Dermatology Online Journal 20(12) Dec 2014

A 16 year old boy presented with a generalized scaly eruption since infancy. Indian J Dermatol 2010;55:411-2

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