|Year : 1992 | Volume
| Issue : 6 | Page : 399-400
Vineet Kaur, Gurpreet Singh
Source of Support: None, Conflict of Interest: None
A case of Lipoid Proteinosis possibly due to a mutant autosomal dominant gene is reported which has additional features of mental subnormality.
Keywords: Lipoid Proteinosis, Hyalinosis cutis
|How to cite this article:|
Kaur V, Singh G. Lipoid proteinosis. Indian J Dermatol Venereol Leprol 1992;58:399-400
| Introduction|| |
Lipoid proteinosis is a very rare, recessively inherited disorder typified by infiltration of a hyaline material in the skin, oral cavity, larynx and internal organs. This case is being presented for its unusual features.
| Case Report|| |
A 18-year-old male presented with complaints of slowly progressive hoarseness of voice and a peculiar, yellowish, waxy scarring of skin over the face and extremities since infancy. The skin lesions appeared as recurrent episodes of pustules on the face and extremities which were treated as pyoderma. On healing, these pustules left pitted scars. With increasing age the patient noticed whitish nodules on his tongue which again were misdiagnosed as fungal infections and treated accordingly. Since the last four years, the eyelashes had begun shedding and the margins of the eyelids had become thickened and irregular.
There was no history of consanguinity in the parents.
On examination, the skin of the face including lips and the extremities had yellowish nodules punctuated by pitted scars. The lid margins showed loss of eyelashes and a typical beading with waxy papules. The tongue was thickened and firm and the patient was unable to protrude it fully [Figure - 1]. There were warty lesions on both elbows and dorsae of hands. Patient's mental functions were subnormal.
No haematological abnormality was detected. Direct laryngoscopy showed thickened epiglottis. Vocal cords could not be visualized. X-ray skull and EEG were within normal limits. CT scan revealed mild brain atrophy IQ according to parameters of the Seguin Form Board was 70. Skin biopsy should extracellular hyaline deposits around capillaries and sweat glands. The deposit was PAS positive and diastase resistant.
| Discussion|| |
Although first reported by Seibman in 1908, it was Urbach and Weithe who in 1929 characterized this entity and named it "Lipoidosis cutis et mucosae". It was later rechristened by Urbach as "Lipoid Proteinosis".
Most of the cases reported so far have been from South Africa and Central Europe  and arisen in Caucasian race.  However, in the 1980s a few cases have been reported from India t00 ,.
All the cases reported in literature were transmitted by autosomal recessive genes as evidenced by consanguinity among parents and absence of disease in them. A case has been reported earlier  from this district in whom recessive inheritance could not be established. The case under discussion is also from the same area and has a similar genetic history. It indicates that inheritance may be autosomal dominant in some cases and these two cases may be due to mutant genes.
The clinical features and histology are typical of Lipoid proteinosis. Mental subnormality and brain atrophy has not been associated with this disorder except in the earlier case from this area. Lipoid proteinosis with mental subnormality may be a subset of the parent disorder which is possibly autosomal dominant in inheritance.
| References|| |
|1.||Grosfild J C M, Spaas J, vande Staak W J B M, Stadhouders A M. Hyalinosis cutis et mucosae. Dermatologia 1965; 130: 239-66. |
|2.||Burnett J W, Marcy S M. Lipoid proteinosis. Amer J Dis child 1963; 105: 81-4. |
|3.||Bansal NK, Mathur GK. Lipoid proteinosis. Ind J Dermatol Venereol Leprol 1982; 48 : 209 - 12. |
|4.||Bagale RT. Lipoid proteinosis. Ind J Dermatol Venereol Leprol 1982; 48 : 295 - 97. |
|5.||Kumar AS, Seetharam KA, Singh MK, Vasvani N. Lipoid proteinosis. Ind J Dermatol Venereol Leprol 1986; 52 : 95 - 8. |
|6.||Singh G, Mishra D. Lipoid proteinosis. Int J Dermatol 1988; 27 : 344 - 5. |
[Figure - 1]