Migratory polycyclic lesions with facial eczema since infancy.

A 16 year old boy, first child of consanguineous parents presented with a generalized scaly eruption with a waxing and waning course since infancy.

His physical and intellectual development was normal and there was no history of colloidian membrane or any vesiculobullous lesions. Patient gave history of recurrent rhinitis since childhood however there was no family history of atopy or similar skin lesions. Cutaneous examination revealed widespread erythematous, serpiginous, annular and polycyclic, scaly plaques over face, trunk, upper and lower extremities [Figures 1 and 2]. Lichenification of flexures was present with hyperkeratotic plaques in the neck [Figure 3]. Scalp hair was short and coarse, however nail, genitalia and mucous membrane were normal. Biopsy features from the scaly plaque on the forearm are shown in Figure 4.

Figure 1

Facial eczema since infancy

Figure 2

Close up view of the scaly plaques on the forearm showing the characteristic double edge scale

Figure 3

Hyperkeratotic plaque on the neck

Figure 4

Photomicrograph showing the hyperkeratotic epidermis, parakeratosis and accentuation of the granular layer (H and E, x400)

Question

What is your diagnosis?

Answer

Ichthyosis linearis circumflexa

Histopathological findings

Biopsy from the scaly plaque on forearm showed hyperkeratosis, mild focal parakeratosis with irregular accentuation of granular layer and a sparse perivascular lymphohistiocytic infiltrate in the dermis suggestive of ichthyosis linearis circumflexa.

Discussion

Ichthyosis linears circumflexa (ILC) a rare and distinctive entity was recognized by clinicians for many years but confusion existed due to proper descriptive terminology. It was first described by Comel in 1949.[1]

ILC is inherited by an autosomal recessive gene of variable expressivity and is clinically characterized by recurrent crops of erythematous annular, polycyclic or serpiginous scaly patches with double edged scales which constantly change their size and shape and involute spontaneously.[23] Generalized erythema and scaling are present in almost in all patients since birth. Lichenification of popliteal and cubital fossa and red, scaly face and eyelids are also seen. It forms an important component of Netherton's syndrome that was first described by Comel in 1949 and later by Netherton in 1958.

Netherton's syndrome is characterized by triad of ILC, trichorrhexis invaginata and an atopic diathesis.[4] Altmen and Stroud in 1969 suggested that the Netherton's syndrome and ILC are manifestations of same entity.[5]

The skin lesions of Netherton's syndrome appear at birth or shortly therafter as congenital ichthyosiform erythroderma with a collodion baby phenotype. This erythroderma gives place after 1-2 years to characteristic lesions of ichthyosis linearis circumflexa. Patients with Netherton's syndrome have sparse, dry, short and brittle hair and diagnosis is established by demonstration of trichorrhexis invaginata on light or scanning electron microscopy. Teeth and nails are not involved in this disease. Netherton's syndrome is caused by mutation in Spinks gene located on long arm of chromosome 5.[6] This gene encodes for protein Latki, which inhibits the enzyme serine proteinase in the outermost layer of the skin, deficiency of which leads to uninhibited desquamation of horny layer; as a result of which skin becomes red and scaly.This is responsible for all the characeristic symptoms of Netherton's syndrome. It has been observed mostly in females however Smith et al. in his review of 43 patients described a male patient with Netherton's syndrome.[7]

About 30%-75% of the patients develop atopic manifestations as atopic dermatitis like skin lesions, urticaria, angioneurotic edema, atopic rhinitis, food allergy, peripheral eosinophilia and elevated IgE.[8] The prognosis of Netherton's syndrome is poor with high postnatal mortality due life threatening complications such as bronchopneumonia, sepsis and hypernatremic dehydration secondary to severe water loss via inflamed skin.

In infancy, erythrodermic atopic or seborrhoeic eczema, non bullous ichthyosiform erythroderma(NBIE), staphylococcal infection, psoriasis, protein metabolic disorders and in older children and adults, erythrokeratoderma variabilis, atopic eczema, NBIE and pemphigus foliaceous should be considered in the list of differential diagnoses.

There is no specific treatment protocol and emollients, mild keratolytics, topical steroids, tar preprations and oral vitamin A derivatives have been tried with temporary and moderate effects. Long term treatment with topical Tacalcitol has been tried in few cases with good results and without any severe sideffects. Spontaneous remission of hair defect can occur between 6 and 15 years. PUVA has been tried with good results.[910]

Our patient had typical lesions of ichthyosis linearis circumflexa with personal history of atopy, however we could not demonstrate the hair shaft defect. Our patient was treated with emollients, topical retinoids along with oral vitamin A and he showed dramatic improvement after one month of treatment. Now patient is on regular follow up and is asymptomatic.