|Year : 2003 | Volume
| Issue : 2 | Page : 180-181
K Muhammed, B Safia
Dept. of Dermatology and Venereology, Medical College, Kazhikade, Kerala - 673 008, India
Dept. of Dermatology and Venereology, Medical College, Kazhikade, Kerala - 673 008
There is an expanding list of syndromes that combine ichthyosis with neuroectodermal and mesodermal defects. We report a syndrome of congenital ichthyosis with atrophy, mental retardation, dwarfism, aminoaciduria, primary amenorrhoea and underdeveloped secondary sexual characters in a 38-year-old woman of non consanguinous parentage.
|How to cite this article:|
Muhammed K, Safia B. Passwell syndrome.Indian J Dermatol Venereol Leprol 2003;69:180-181
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Muhammed K, Safia B. Passwell syndrome. Indian J Dermatol Venereol Leprol [serial online] 2003 [cited 2019 Nov 16 ];69:180-181
Available from: http://www.ijdvl.com/text.asp?2003/69/2/180/5914
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. 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.
A 38 - year-old woman, born out of anon consanguinous parentage after an uneventful 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 nourished. No history of epilepsy or delay in developmental milestones, but not yet attained menarche. The facial appearance was characteristic [Figure:1]. She had a depressed nose. The breasts were underdeveloped, limited to nipples only, with absence of all other secondary sexual characters. The external genitalia appeared normal, but vaginal orifice was narrow with intact hymen. Her skin was xerotic and atrophic with ichthyosis involving legs, forearm and forehead associated with fine scaling [Figure:2] and [Figure:3], consistent with Ichthyosis vulgaris. There were multiple caries teeth with enamel hypoplasia. The lower incisors were absent, following extraction. There was dermatitis affecting legs and dorsa of feet. Hearing was normal, but she had defective vision. Melanonychia of finger and toe nails were present. All other systems were within normal limits.
Baseline blood investigations were normal. Urine examination showed one plus proteinuria. Blood VDRL and TPHA tests were non reactive. Urine acid chromatography showed histidine and tyrosine (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 vertebrae. 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 bilateral cataract. Buccal smear was positive for Barr body.
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). In 1977, Yesudian and Srinivas reported, in an Indian family, two siblings with lamellar ichthyosis, aminoaciduria, pilitorti and longitudinal splitting of hair shafts. 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.
|1||PasswelI J, Ziprkowskin L, Katzelson D, et al. A syndrome characterised by congenital ichthyosis with atrophy, mental retardation, dwarfism and generalised amino aciduria. J Pediatr 1973; 82: 466 - 5471.|
|2||Jorizzo JI, Crounse RG, Wheeler CE J. Lamellar ichthyosis, dwarfism, mental retardation and hair shaft abnormalities. J Am Acad Dermatol 1980;2:309-317.|
|3||Yesudian P Srinivas K. lchthyosis with unusual hair shaft abnormalities in siblings. BrJ Dermatol 1977; 96: 199 -203.|