Journal of Postgraduate Medicine Medknow Publications and Staff Society of Seth GS Medical College and KEM Hospital, Mumbai, India ISSN: 0022-3859 EISSN: 0972-2823 Vol. 48, Num. 3, 2002, pp. 210,212

Journal of Postgraduate Medicine, Vol. 48, Issue 3, 2002 pp. 210 & 212

Spot the Diagnosis

Karthikeyan K, Thappa DM, Rakhesh SV

Department of Dermatology and STD, JIPMER, Pondicherry - 605006, India. E-mail: dmthappa@satyam.net.in

Code Number: jp02087

A 24-year-old male presented with hoarseness of voice and asymptomatic papular eruption on the face since infancy. He was the second child in the family, born to consanguineous marriage. His younger sister had similar disease. He had no history of photosensitivity or blistering, seizures. He had multiple yellowish waxy papules on the borders of his eyelids giving it a beaded appearance (Figure 1). Similar lesions were also seen on forehead, arms and upper trunk. The skin over the face and neck was shiny and infiltrated with areas of pock like scarring. He also had vegetating plaques in the intertriginous areas. The lips were thickened, infiltrated and everted. The buccal mucosa had a distinct cobblestone appearance. His tongue was firm and enlarged. Systemic examination did not reveal any abnormalities.

Indirect laryngoscopy revealed irregularity of middle third of vocal cords along with nodular deposits in inter-arytenoid area. Computerised tomography revealed areas of calcification in the temporal region of cerebrum in the brain. Histopathological examination of biopsy specimens taken from the face, axilla and mucosa showed extracellular hyaline material deposited in the dermal papillae, and in the dermis along the course of capillaries and concentrically around sweat glands. Similar findings were noted in lip mucosa biopsy (Figure 2). The extracellular material stained strongly with periodic acid schiff stain and was diastase resistant.

What is the diagnosis?

Diagnosis is lipoid proteinosis.

Lipoid proteinosis is a rare disorder characterised by infiltration of hyaline material into the skin, oral cavity and internal organs.¹ It is inherited as a monogenetic autosomal recessive disorder of normal chromosomal pattern.² The earliest manifestation is hoarseness that develops in infancy, which can progress to complete aphonia without breathing difficulty.³ Examination of larynx frequently reveals infiltration, thickening and nodularity of cords.¹ The mucosa of pharynx and tongue may also develop firm yellow nodules giving it a cobblestone appearance. The tongue is enlarged and firm on palpation with decreased range of movements. Ankyloglossia can occur due to involvement of the lingual frenulum.^1,3

Deposition of hyaline material along the eyelid margins results in typical beaded papules - `moniliform blepharosis'. This eyelid beading is the single most typical clinical feature of this disease.³ In later stages, there may be total loss of eyelashes. Further infiltration of eyelids leads to its malfunction and can cause corneal ulcer.⁴ Neurological abnormalities include calcification in the hippocampus and falx cerebri and temporal lobe epilepsy.¹ The nature of hyaline material and underlying metabolic defect is unknown.⁴ It may represent an underlying lysosomal storage disorder with single or multiple enzyme defects, others have postulated it to be a disorder of collagen metabolism or collagen synthesis.⁴

There is presently no effective therapy for lipoid proteinosis.⁵ Hoarseness may be relieved temporarily by surgical removal of vocal cord infiltrates. Facial lesions may be treated by dermabrasion, chemical skin peeling and blepharoplasty. Treatment by oral dimethyl sulphoxide has been claimed to be successful.⁵

Karthikeyan K, Thappa DM, Rakhesh SV

Department of Dermatology and STD, JIPMER, Pondicherry - 605006, India. E-mail: dmthappa@satyam.net.in

References

1. Hofer PA. Urbach-Wiethe disease (Lipoglycoproteinosis; Lipoid proteinosis; hyalinosis cutis et mucosae): a review. Acta Derm Venereol (Stockh) 1973;53(Suppl 71):1-56.
2. Chakrabarti K, Sengupta SK, Ghosh AK, Das SK. Lipoid proteinosis (Urbach-Wiethe syndrome) with dwarfism. Indian Pediatr 1991;28:75-8.
3. Konstantinov K, Kabakchiev P, Karchev T, Kobayasi T, Ullman T. Lipoid proteinosis. J Am Acad Dermatol 1992;27:293-7.
4. Newton JA, Rasbridge S, Temple A, Pope FM, Blacks MM, Mckee P. Lipoid proteinosis _ new immunopathological observations. Clin Exp Dermatol 1991;16:350-4.
5. Wong CK, Lin CS. Remarkable response of lipoid proteinosis to oral dimethyl sulphoxide. Br J Dermatol 1988;119:541-4.

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