Netherton syndrome - Bamboo hair

Netherton syndrome - Bamboo hair Netherton syndrome, tricorexis invaginated or bamboo hair is a recessive autosomal genodermatoza of unknown cause characterized by erythroderma, tricorexis invaginated, linear circumflex ichthyosis, atopic diathesis and no seat. Bamboo hair is curly or sock deflection of hairs distal to the invagination of the hair cuticle in the cup formed by the proximal cuticle. This invagination occurs intermittently printrun keratinization defect.
It recommended the application of emollients, keratolytic and antibiotics for this condition. Topical steroids are useful. They tried PUVA phototherapy, retinoids. The patient requires medical care when the erythroderma is generalized and complicated skin infections. Erythroderma and hair deformation persists. The disease tends to improve with age, but the outcome may intermittent exacerbations.
Pathogenesis and causes
The etiology of the syndrome is unknown. The condition is inherited in an autosomal recessive with variable expressivity. Invagination loss is due to a defect of the hair cortex by incomplete conversion of cortical fibers binding proteins. Cortical defect leads to fragility, deformation and invagination in bamboo. Migration of linear circumflex ichthyosis injuries are caused by a dermal influx of inflammatory cells are phagocytized by the keratinocytes.
As in other severe congenital dermatoses, inflammatory changes are common in the skin. Not cunoscte if this inflammatory response is a primary or secondary. The histology observed focal interruption of the maturation of the epidermis and abnormal hair cuticle. Transdermal water loss resulting growth by disrupting the barrier function of the corneocytes, with profound hyponatremia and metabolic abnormalities, especially in newborns.
Signs and symptoms
Erythroderma. Children with this syndrome develop congenital erythroderma evident at birth and first weeks of life. Pruritus is universal and can be stressful. Netherton syndrome has been classified as a syndrome of ichthyosis, but most children appears as erythema, seborrheic dermatitis eczemato characterized by the eruption periorificiala emphasis. Mucosal involvement is not reported. Ectroprionul may develop in older patients.
Circumflex linear ichthyosis. It is a rash cancellation / polycyclic migratory, serpiginoasa characteristic with double-edged scales. Netherton syndrome is pathognomonic. It usually appears after age 2 years and is short-just a few months up to years. Tends to persist longer in adults to children.
Failure to take the seat. This condition is deep in the first years of life. It is accompanied by symptoms of diarrhea and malabsorption. Viloasa jejunal atrophy can resolves spontaneously up to the age of 10 years. Dermopatica enteropathy is a malabsorption. It is not specific to this syndrome. In the second year of life most children begin to produce stool.
Atopic manifestations. All patients in a certain stage of the disease will develop food allergies, especially nuts. Most shows atopic predisposition, with a strong family history of asthma, eczema and hay fever.
Physical examination. All patients have abnormal hair. It is short, dull. Scalp hair grows a few inches before it breaks. This element is more obvious areas of friction, temples and occiputul. Eyebrows also shows the broken wires. Some patients describe the fragility of the hair and reducing the number of hairs.
Diagnosis
Laboratory studies: Hair microscopy showed lymph-bamboo Ultrastructural studies show-tonofilamente reducing the number of keratohialin, the lamellar body and altered desmosomilor DNA-studies will be made. Histological examination. Describe the elements of nonspecific dermatitis and psoriasiform hyperplasia. Hyperkeratosis is easy compared to other ichthyosis. Porokeratoza is observed and the absence of granular layer. It describes a mixed inflammatory infiltrates with perivascular distribution. The differential diagnosis is made with the following conditions: acrodermatitis enteropathy, erythroderma, eritrokeratoderma variabilis.
Treatment
Regimens include prevention of bacterial infections of skin, application of emollients, keratolytic. Topical steroids are useful, but there are reports showing the occurrence pituitaro-adrenal axis suppression and aminoaciduria. The treatments tested were not helpful. Erythroderma and hair anomalies persist. The disease tends to improve with age, but evolution is punctuated by intermittent exacerbations. Erythroderma can be transformed into linear circumflex ichthyosis regularly. Colonization of skin and skin infections can occur frequently.