Urbach-Weithe disease (lipoid proteinosis): A classical presentation.

A 10-year-old female child presented with a history of blistering over face and entire body along with a weak cry since infancy and hoarseness of voice that progressively worsened with age. The blisters would occur in response to minor trauma and resolve with depressed scars. On examination, multiple, atrophic, pock-like scars were noted over the face [Figure 1] as well as extremities and trunk [Figure 2]. Both eyelids showed multiple, well-defined beaded papules along the upper and lower margins (moniliform blepharosis) [Figure 1]. Skin over the extensor aspect of the elbows and knees was thickened and showed a few brownish, thickened plaques [Figure 3]. Upon oral examination, the sublingual frenulum and tongue were found to be infiltrated and thickened with inability to protrude the tongue beyond the oral cavity [Figure 4]. The tongue had a woody hard feel on palpation. The parents denied any history of epilepsy, behavioral disturbances, or similar ailment in any family member. A provisional diagnosis of lipoid proteinosis was made and subsequently confirmed by histopathological examination, which revealed periodic acid schiff (PAS)-positive, diastase-resistant eosinophilic material in dermis and walls of blood vessels [Figure 5]. Parents were counseled regarding the nature and progression of the disease.

Figure 1

Multiple beaded papules on upper and lower eyelids in both eyes, with pock-like scars on nose and cheeks

Figure 2

Multiple depressed scars over buttocks and thighs

Figure 3

Brownish hyperpigmented plaques over both knees

Figure 4

Thickened, woody hard, and fixed tongue in oral cavity

Figure 5

PAS-positive, diastase-resistant eosinophillic material deposition in perivascular and periadnexal spaces in dermis (20x)

Lipoid proteinosis, also known as Urbach–Wiethe disease or hyalinosis cutis et mucosae, is a rare, autosomal recessive, inherited disorder associated with mutations in the ECM1 gene,[1] which encodes for the glycoprotein extracellular matrix protein 1. About 300 cases have been reported so far in the literature. The disease is characterized by deposition of hyaline material in oral cavity, skin, larynx, central nervous system, and others. It usually presents in infancy as hoarseness and weak cry that progressively worsens with age and may lead to aphonia[2] due to inelasticity of the vocal cords. The woody hard tongue is difficult to move or protrude outside oral cavity.[3] Skin susceptibility to trauma is marked and vesicles/bullae appear in crops, to subsequently heal with acneiform scars. The typical beaded papules along the upper and lower eyelid margins and brownish verrucous plaques over extensor surfaces such as elbows and knees are characteristic of the disease.[4] Poor nail growth, dental anomalies, and intracranial calcification in amygdala and temporal lobes leading to epilepsy or psychiatric disturbances may be seen.[5] Typical skin lesions, hoarseness, and thick immobile tongue usually suffice for clinical diagnosis, although other possible differential diagnoses, such as erythropoietic protoporphyria, amyloidosis, lichen myxedematosus and myxedema with hoarseness need to be carefully ruled out. Histology reveals hyperkeratosis, acanthosis and deposition of characteristic PAS-positive, diastase-resistant eosinophilic hyaline material in the perivascular, periadnexal areas as well as dermis and submucosa. Microlaryngeal surgery for vocal cords, blepharoplasty for eye lesions and dermabrasion, chemical peeling, and CO2 laser therapy for skin lesions may offer some symptomatic relief.[2] Favorable outcome with acitretin and d-penicillamine has been reported by some authors.[67] The overall prognosis of lipoid proteinosis is good, with normal life expectancy and stabilization of the disease in adulthood.

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