Year : 2006 | Volume
: 51 | Issue : 1 | Page : 47--48
Lipoid proteinosis in two siblings
Samira Kumar Behera, Surajit Nayak, Basanti Debi, Antaryami Sahu, Debiprasad Mishra
M.K.C.G. Medical College, Berhampur, Orissa, India
Samira Kumar Behera
D/11, Medical Campus, M. KCG Medical College, Berhampur-760 004, Orissa
Lipoid proteinosis denotes a rare autosomal recessive disorder. We report here lipoid proteinosis in a 31-year-old unmarried female along with her sibling. She had hoarseness of voice along with multiple asymptomatic warty papules over face, neck and extremitis with similar findings in one of her siblings. Laryngoscope showed beaded deposits over epiglottis and vocal cords of both patients. Biopsy showed PAS-positive homogeneous eosinophilic materials in upper dermis.
|How to cite this article:|
Behera S, Nayak S, Debi B, Sahu A, Mishra D. Lipoid proteinosis in two siblings.Indian J Dermatol 2006;51:47-48
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Behera S, Nayak S, Debi B, Sahu A, Mishra D. Lipoid proteinosis in two siblings. Indian J Dermatol [serial online] 2006 [cited 2019 Nov 13 ];51:47-48
Available from: http://www.e-ijd.org/text.asp?2006/51/1/47/25193
Lipoid proteinosis also known as hyalinosis cutis et mucosa or Urbach Weithe disease (OMIM 247100) is a rare autosomal recessive disorder., This disease appears in early infancy characterized by hoarseness of voice together with various cutaneous manifestations (acneform scarring, warty papules, eye lid heading) and non-cutaneous manifestations attributed to infiltration of hyaling rich material in the skin, larynx and various organs. This hyaline material is PAS (Periodic-Acid-Schiff) positive and diastase resistant and is believed to the result of deposition of non-collagenous protein and glycoprotein. The exact pathogenesis of lipoid proteinosis is unknown and is found to be associated with disturbance of collagen metabolism with decrease in type-I collagen, which get deposited in dermis and arbound blood vessels and appendages.
A 31 year old unmarried lady born of consanguineous marriage came to the skin out patient with complains of generalized pruritus. She was examined and found to be suffering from scabies which was confirmed by clinical and relevant tests. Surprisingly she had hoarseness of voice along with multiple asymptomatic raised skin lesions over face, neck and extremities. A careful history revealed a similar finding in one of her sibling. Both the siblings had normal outcome at birth but started developing hoarseness of voice by end of 9th year. Subsequently in the next 2-3 years they started developing small blisters over face, trunk and extremities, which ruptured spontaneously and healed with scarring. This episode continued for next 6-7 years with gradual decrease in severity. In the meantime multiple warty popular eruptions started over face, trunk and extremities. Both had an almost similar clinical progression. History of photosensitivity, respiratory complications or seizures was absent in both. Two of her other siblings (one brother and sister) had no similar disorder and were other-wise healthy.
Examination of both affected siblings revealed an otherwise healthy status other than a hoarse voice and numerous skin colored warty papules on forehead and face [Figure 1], [Figure 2], neck and extremities. Eyelid beading (Moniliform blepharosis) was present bilaterally in upper and lower eyelids [Figure 1], [Figure 2]. Tongue was woody hard on palpation. Frenulum was thickened and showed yellow white infiltration. There was mal-alignment of lower incisors in male sibling. Indirect laryngoscope showed headed deposits over epiglottis and vocal cords of both patients. Examination of other vital systems like cardiovascular system, central nervous system and eye was normal in both. A routine haemogram, renal and liver profile was normal. X-ray of skull failed to show an abnormality/calcified area.
Biopsy taken from skin demonstrated mild hyperkeratosis, irregular acanthosis and thinning of epidermis overlying the papillary dermal papillae. Upper dermis show homogenous eosinophilic material. Similar type of deposit was found around sweat glands and capillaries. Eosinophilic material was PAS positive and negative for amyloid.
Lipoid Proteinosis is an autosomal is an autosomal recessive disorder and was first described by Siebenmann in 1908. It was established as a distinct clinical and histologic entity by Urbach and Weithe in 1929. Urbach gave the term "Lipoid Proteinosis" in 1932 to this disease.
Clinically, lipoid proteinosis is characterized by nodules/papules, indurate plaque and ulcerated lesions primarily involving skin and mucous membrane. The manifestation of lipoid proteinosis is associated with extensive deposition of non-collagen protein and glycoprotein in skin, larynx and other organs., Hoarseness, usually the earliest symptom of lipoid proteinosis may develop early in infancy or during childhood. Skin manifestations which usually follow hoarseness includes whitish nodule on the eye lids (Blepharosis moniliformis) and yellowish or waxy papules on lips, knuckles side of hand, on knees, elbows or in axilla. Sometimes vesiculo-bullous eruption acneform lesions may be present which are followed by nodules or plaque or pock like scars., Lipoid proteinosis has been documented to occur away siblings. Our patients has been added to this list.
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