Passwell syndrome

Introduction

The ichthyosiform dermatoses are a group of heridiable disorders characterised by cutaneous scaling. Apart from the four common types, congenital ichthyosis is known to occur in a number of genetically determined syndromes (′complex ichthyosis′ or ′rare ichthyosis′).

In 1973, Justen Passwell and coworkers reported a syndrome of congenital ichthyosis with atrophy, mental retardation, dwarfism and generalised aminoaciduria in three siblings of an Iraqui Jewish descent family born out of consanguinous marriage.[1] Renal glycosuria and uricosuria were noted in some affected and unaffected members. They postulated that two renal tubular reabsorption defects are independent of the ichthyosis syndrome. The teeth were dystrophic with marked caries. The genitals were infantile with no evidence of secondary sexual characters. There was generalised aminoaciduria in three of the affected siblings. Megacolon was observed in one patient. There were several areas of hyperpigmentation in the trunk. The skin had a wrinkled appearance. We are reporting a case of congenital ichthyosis associated with neuroectodermal, gynaecological and biochemical abnormalities, almost similar to the case reported by Passwell.

Case Report

A 38 - year-old woman, born out of anon consanguinous parentage after an unevent-ful pregnancy, came to our outpatient department for treatment of eczematous lesions of legs and

feet, which was recurrent for the last four years. She was a short - statured woman (height 131 cm) with low intelligence, ill built and poorly nour-ished. No history of epilepsy or delay in develop-mental milestones, but not yet attained menarche. The facial appearance was characteristic [Figure - 1]. She had a depressed nose. The breasts were un-derdeveloped, limited to nipples only, with absence of all other secondary sexual characters. The ex-ternal genitalia appeared normal, but vaginal ori-fice was narrow with intact hymen. Her skin was xerotic and atrophic with ichthyosis involving legs, forearm and forehead associated with fine scal-ing [Figure - 2] and [Figure - 3], consistent with Ichthyosis vul-garis. There were multiple caries teeth with enamel hypoplasia. The lower in-cisors were absent, fol-lowing ex-traction. There was dermatitis af-fecting legs and dorsa of feet. Hearing was normal, but she had defective vi-sion. Mel-anonychia of finger and toe nails were present. All other systems were within normal limits.

Baseline blood investi-gations were normal. Urine examination showed one plus pro-teinuria. Blood VDRL and TPHA tests were non re-active. Urine acid chroma-tography showed histi-dine and ty-rosine (ami-, noaciduria). Serum growth hormone was normal (6ng/ ml) and FSH was high (30.8 mIU/L). Bone survey showed osteoporosis affecting long bones and ver-tebrae. Ultra- sonogram of abdomen showed hypoplastic uterus and ovaries not imaged. The right kindey was also hypoplastic. Slit lamp examination of the eye showed punctate opacity of left cornea and bilat-eral cataract. Buccal smear was positive for Barr body.

Discussion

There is an expanding list of syndromes that combine ichthyosis with neuroectodermal and mesodermal defects. The importance of recognition of these syndromes is to stimulate more careful assessment of congenital ichthyosis patients for neurologic, ectodermal,auditary, visual, gynaecologic and biochemical defects. Passwell studied a family in which three of five children had congenital ichthyosis with atrophy and numerous other clinical findings. The family is of an Iraqui Jewish descent and the patients were first cousins and several instances of consanguinous marriage had occurred. In 1980 Joseph L. Jorizzo and coworkers reported a syndrome of lamellar ichthyosis, mental retardation, nail and dental abnormalities, unusual facies, poor sexual maturation, punctate cataracts and hair shaft abnormalities, (pilitori, trichoschisis, bright and dark bands with low hair sulphur content).[2] In 1977, Yesudian and Srinivas reported, in an Indian family, two siblings with lamellar ichthyosis, aminoaciduria, pilitorti and longitudinal splitting of hair shafts.[3] But our case shows more similarity to the case reported by Passwell. In our case the ichthyosis was of vulgaris type, and there was no consaguinity. Only hisidine and tyrosine were present in the urine. The dwarfism is characterised by short stature, small head circumference, short trunk and normal growth hormone levels. In our case growth hormone level was normal. As facilities are not available, karyotyping was not performed, but this has to be done to rule out Turner′s syndrome. In our patient, apart from the features reported by Passwell, there was primary amenorrhoea and multiple punctate opacity in the left cornea and bilateral cataract. The leg eczema is of asteatotic type, which is known to occur in ichthyosis.