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Página de Inicio arrow Noticias arrow Lipoid proteinosis
Lipoid proteinosis Imprimir E-Mail
Mukhija Pooja, Singh Shweta, Singh Shailendra Kumar, Mukhija RD
P&G Skin Clinic, Cinema Road, Gorakhpur - 273 001, India
Correspondence Address:
Mukhija Pooja
P&G Skin Clinic, Cinema Road, Gorakhpur - 273 001
India
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Abstract

A three and half years old female child with lipoid proteinosis with no history of parental consanguinity and affected siblings has been reported here. The patient presented with complant of delayed healing, persistent oozing lesions which is quiet unusual as compared to that of hoarseness of voice which is usually the presenting complaint.
Keywords: Lipoid proteinosis, Consanguinity

Introduction

Lipoid proteinosis is a rare, autosomal recessive disorder characterized by infiltration of hyaline maternal into the skin, oral cavity, larynx and internal organs.[1] Patients usually present with complaints of hoarseness of voice and history of parental consanguinity and affected siblings. We report a case where the chief complaint at the time of presentation was non-healing, persistent, oozing and hyperkeratotic lesions over the scalp, lower back and buttocks. Very recently the disorder has been mapped to chromosome Iq21 and has been shown to be caused by mutation in extracellular matrix protein 1 gene.[2]

Case Report

A three and half year old female was brought by her parents with complaints of persistent, non-healing, oozing, crusted and hyperkeratotic lesions once the scalp, lower back and buttocks. The child was the youngest amongst the three children and no other child was affected. There was no history of parental consanguinity.

On history the baby was normal at birth. According to the parents her cry was coarse and feeble since infancy and speech development had not occurred till the time of presentation. In her second year of life she started developing persistent, oozing, crusted lesions, which used to take long time to heal. Soon after she developed 1-2 mm skin colored eruptions over the lateral end of eyebrows, nose which used to heal with scarring. There was also history of patchy hair loss over scalp. There was no history of photosensitivity, respiratory obstruction or epilepsy. No other family member was affected.

On clinical examination there was hoarseness of voice, oral mucosa was thickened with slightly yellowish tinge, tongue was thickened, firm and with restricted mobility, lips were thickened and protuberant [Figure - 1]. Beaded, skin coloured waxy papules were present along the margins of upper eyelids. acneform scars were present over the nose. Patches of scarring alopecia were present over the scalp [Figure - 2]. Oozing, crusted and hyperkeratotic lesions were present over the lower back and buttocks along with atrophic scars [Figure - 3].

No anomaly was detected on systemic examination. Dentition was normal according to her age. Routne investigations were normal. Biopsy of skin lesions revealed dense homogenous brightly pink, PAS positive hyaline deposits in the papillary and upper dermis mainly around the blood vessels and eccrine glands.


Discussion

Hoarseness since infancy, beaded papules along the margin of eyelids, firm and less mobile tongue, thickened protuberant lips and thickened oral mucosa with yellowish tinge clinched the diagnosis of lipoid proteinosis. Scars on face may pose difficulty in differentiating from erythropoietic porphyria. Absence of protosensitivity and presence of PAS positive maternal on sun protected areas and periappendageally helped to delineate this condition. [3],[4],[5] In adults the differential diagnosis includes lichen myxoedema and myxoedema. The prognosis of lipoid proteinosis is generally good although, the disease is progressive until early adult life.[6] Almost every organ of the body is involved. Treatment is limited, dimethylsulphoxide, D-penicillamine and etretinate has had variable results. [6],[7],[8]

References

1. Black MM. Lipoid proteinosis; Metabolic and nutritional disorders. In: Champion RH, Burton JL, Burns DA, Breathnack SM, eds. Textbook of Dermatology. 7th ed. Oxfor, England: Blakcell Science, 2004: 57.56-57.57. 

2. Hamada T, Wessagowit V, South AP, Ashton GH, et al . Extracellular Matrix Protein 1 Gene (ECM1) Mutations in Lipoid Proteinosis and Genotype-phenotype Correlation. J Invest Dermatol 2003: 120: 345-50. 

3. Hofer PA. Urbach-Weithe disease: a review. Acta Derm Venerol (Stockh) 1973; 53 (Suppl. 71):1-56. 
   
4. Harper JI, Filipe MI, Staughton RCD. Lipoid proteinosis: variations in the histochemical characteristics. Clin Exp Dermatol 1983; 8L:135-41. 
  
5. Newton JA, Rasbridge S, Temple A, et al . Lipoid proteinosis: new immunopathological observations. Clin Exp Dermatol 1991; 16: 350-4. 
   
6. Caplan RM. Visceral involvement in lipoid proteinosis. Arch Dermatol 1967; 95: 149-55. 

7. Wong CK, Lin CS. Remarkable response of lipoid proteinosis to oral dimethyl sulphoxide. Br. J Dermatol 1988; 199: 541-4. 

8. Dowlati A, Dowlati Y, Mansauri P, et al . Lipoid proteinosis and its response to etretinate therapy. In: Pierard GE, Pierard-Franchimont C, eds. The Dermis: From Biology to Dissease. Paris: Monographies. Dermatopathologiques Liegoises, 1989; 135-42. 

 
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