Introduction: Lipoid proteinosis is a rare autosomal recessive genodermatosis with only approximately 300 cases reported worldwide. This condition is due to the loss of function mutation of the ECM1 gene which encodes for extracellular matrix protein 1 (ECM1), a secretory protein that promotes angiogenesis and is a negative regulator of endochondral bone formation. Case summary: We report a case of a 23-year-old male who presented with chronic recurrent verrucous and waxy lesions on the face and body, diffuse alopecia of the scalp, and hoarseness of voice. Lesions heal leaving scars. Dermoscopy of the eyelid margins show white to yellowish clods with accentuated brownish halo. Lesions on the nape show multiple follicular symmetric whitish-yellow clods with brownish halo and well-defined borders. Lesions on the elbows show a reticular pattern with white clods and diffusely distributed brown dots. Histopathology shows basket-woven stratum corneum, spongiosis of the epidermis with vacuolar alteration, and formation of clefts in the basal cell layer. The papillary dermis shows hyaline material which also surrounds the blood vessel and the adnexal structures. There is mild superficial and mid dermal perivascular inflammatory infiltrate of lymphocytes. PAS highlights eosinophilic material in the papillary dermis which also surrounds the blood vessels and the adnexal structures. Alcian blue staining reveals positive staining for hyaline deposits. Conclusion This report highlights the importance to recognize the clinical, dermoscopic and histopathological findings of lipoid proteinosis.
Lipoid Proteinosis of Urbach and Wiethe ; Dermoscopy