پوست اریتماتو در حد اریترودرمی،پوست شدیدا خشك همراه با پوسته ریزی،بدون درگیری مخاط
WHAT IS YOUR DIAGNOSIS?
WHAT IS YOUR DIAGNOSIS?
COMEl-NETHERTON SYNDROME
- •Comel-Netherton syndrome (NTS) is an autosomal recessive disorer
- •the broad clinical overlap with other recessive ichthyoses and atopic dermatitis
- •A recent study revealed that 18% of all congenital erythrodermas were attributable to NTS
Clinical Features
- •NTS presents in most (but not all) patients at or soon after birth with generalized erythroderma and scaling resembling congenital ichthyosiform erythroderma, or continuous peeling(peeling skin syndrom) of the skin.
- •collodion membrane is usually not present.
In approximately 20%,of patients,the neonatal period is complicated by hypernatremic dehydration, electrolyte imbalances, failure to thrive, bronchopneumonia and sepsis, which can be fatal
- •In patients with severe disease, generalized ichthyosis and erythroderma persist throughout life
Netherton syndrome with features of generalized congenital
ichthyosiform erythroderma
- •In the majority of patients, however, the ichthyosis gradually evolves into serpiginous or circinate scaling and erythematous plaques, which are bordered by a peculiar double-edged scale and descriptively named 'ichthyosis linearis circumflexa‘
Double-edged scale of ichthyosis linearis
circumflexa.
- •The plaques are usually distributed on the trunk and extremities and change over time in size shape and location, reflecting the undulating course of NTS.
- •The lesions are pruritic, and many patients develop eczematous plaques and/or lichenification in the large folds, especially the wrists and antecubital and popliteal fossae. Scalp involvement with thick, seborrheic scale is common.
- •Most patients have a specific hair shaft abnormality called trichorrhexis invaginata, in which the distal hair segment is telescoped into the proximal one, forming a ball-and-socket-like deformity on microscopic examination .
- •This is also known as “bamboo hair”
Trichorrhexis
invaginata with its ball-and-socket appearance (left arrow) and twist in the hair
shaft (right arrow).
Nodular thickening of the distal end of broken hair shafts ('golf tee').
In addition, multiple other abnormalities, including pili torti, trichorrhexis nodosa and helical hair, may be observed
- •The third characteristic feature of NTS is an imbalance of the immune system.
- • Serum levels of IgE are markedly elevated.
Eosinophilia and allergic reactions to various foods (e.g. nuts, eggs and fish) and other antigens are common, and might range from an exacerbation of skin lesions, urticaria or lip swellings to anaphylactic shock.
- •Children have an increased susceptibility to skin, respiratory tract or systemic infections that might stem from selective antibody deficiencies against protein and bacterial polysaccharide antigens
- •In some patients, a generalized aminoaciduria, mild developmental delay, and impaired cellular immunity may also be present.
Pathology
the epidermis shows pronounced parakeratotic hyperkeratosis with a diminished or absent granular layer, acanthosis and papillomatosis.
There are often dense, almost bandlike, lymphohistiocytic perivascular infiltrates in the papillary dermis.
Subcorneal clefting, spongiosis, exocytosis and Munro's micro abscesses may occur
Differential Diagnosis
- •During infancy, NTS often presents a diagnostic challenge due to its broad overlap with CIE and erythrodermic psoriasis, as well as disorders of the immune system (e.g. Omenn syndrome).
- •electron microscopic detection of premature lamellar body
- • hair shaft abnormalities.
- • Elevated serum IgE
- •defective neutrophil chemotaxis as well as facial, dental and skeletal anomalies observed in the hyper-IgE syndrome are not seen in NTS.
- •Prominent borders with a double-edged scale and associated hair shaft abnormalities are specific for NTS
- • while transient, variable erythematous patches are characteristic of erythrokeratodermia variabilis.
an empirical trial of zinc treatment is indicated In acrodermatitis enteropathica
Treatment
- •Treatment is symptomatic, topical emollients, keratolytics, tretinoin and corticosteroids, alone or in combination.
- • topical lactic acid, calcipotriol preparations or tacrolimus Oral antihistamin systemic cyclophosphamide, PUVA, UVA.
- •Systemic retinoids have been used with varying success, leading to dramatic improvement in some patients and exacerbation of the disease in ithers.
