Humans ; Lipoid Proteinosis of Urbach and Wiethe

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

Adult ; Asian Continental Ancestry Group ; genetics ; Extracellular Matrix Proteins ; genetics ; Humans ; Lipoid Proteinosis of Urbach and Wiethe ; genetics ; Male ; Mutation

We report four cases of hyalinosis cutis et mucosae. They developed hosrseness in their infancy and all had past history of frequent skin infections with accompanying varioliform scars. On physical examination, all the patients had beaded papules along their eyelid margins, hoarseness, varioliform scars and various skin and mucous membrane infiltrations. Pathologic examinations performed on skin infiltrations and eyelid papules revealed diastase resistant periodic acid Schiff positive materials deposited mainly in upper dermis. We have given three of four patients 1g/day of dimethyl sulphoxide from 6 to 12 months with no significant side effects nor remarkable clinical improvement.
Amylases ; Cicatrix ; Dermis ; Dimethyl Sulfoxide ; Eyelids ; Hoarseness ; Humans ; Lipoid Proteinosis of Urbach and Wiethe* ; Mucous Membrane ; Periodic Acid ; Physical Examination ; Skin

This is a rare hereditary disease characterized by hyaline and lipid deposits in the skin and mucous membrane. It starts in infancy or early childhood with hoarseness and swallowing difficulty due to the deposition of the characteristic material in the larynx and pharynx. And then, a skin eruption appears over the face and scalp with bulla, papule, crust and depressed scar forms. A pathognomonic feature is the appearance of translucent papules along free margins of eyelids, giving the appearance of "beads on a string". Other ocular involvement is rare and drusen or degeneration may be seen at the macula. We have observed two cases of Urbach-Wiethe disease in a 7-year-old girl and ll-year-old boy and confirmed by the histopathologic results.
Child ; Cicatrix ; Deglutition ; Eyelids ; Female ; Genetic Diseases, Inborn ; Hoarseness ; Humans ; Hyalin ; Larynx ; Lipoid Proteinosis of Urbach and Wiethe* ; Male ; Mucous Membrane ; Pharynx ; Scalp ; Skin

This is a rare hereditary disease characterized by hyaline and lipid deposits in the skin and mucous membrane. It starts in infancy or early childhood with hoarseness and swallowing difficulty due to the deposition of the characteristic material in the larynx and pharynx. And then, a skin eruption appears over the face and scalp with bulla, papule, crust and depressed scar forms. A pathognomonic feature is the appearance of translucent papules along free margins of eyelids, giving the appearance of "beads on a string". Other ocular involvement is rare and drusen or degeneration may be seen at the macula. We have observed two cases of Urbach-Wiethe disease in a 7-year-old girl and ll-year-old boy and confirmed by the histopathologic results.
Child ; Cicatrix ; Deglutition ; Eyelids ; Female ; Genetic Diseases, Inborn ; Hoarseness ; Humans ; Hyalin ; Larynx ; Lipoid Proteinosis of Urbach and Wiethe* ; Male ; Mucous Membrane ; Pharynx ; Scalp ; Skin

OBJECTIVETo investigate the manifestation, characteristics and treatment of lipoid proteinosis (LP) in larynx.

METHODSSixteen cases of LP with hoarseness as the first sign were reported. The onset was in the newborn period in 10 cases. The upper eyelids were infiltrated in all cases, 13 of them reported an age of onset older than 6 - 8 years. The laryngeal behaviors and its treatment, multisystem manifestations, and characteristics of histopathology were evaluated.

RESULTSOne patient had moderate hoarseness, and the others had severe hoarseness. Videolaryngoscopy revealed thickening of the interarytenoid region and irregularities along the rims and the surface of the vocal folds due to yellowish papules. Oral tissues showed yellow-white infiltrates in 13 cases (81.3%). Whitish moniliform papules on the upper eyelids were found in all cases. Pock-like or acneiform scars were particularly evident on the face and the limbs in 14 cases (87.5%). Histologically, it was characterized by deposition of hyaline material in the submucosa and dermis of the eyelid or larynx with periodic acid-Schiff-positive and Congo red stain-negative. Eight patients underwent microlaryngosurgery for the excision of deposits in the vocal folds. The vocal function was significantly improved after surgery.

CONCLUSIONSOne of the most common features of lipoid proteinosis is hoarseness since infancy with laryngeal involvement. LP patients also display skin or mucosa infiltration of multiple systems. Microlaryngosurgical excision of the deposits in the vocal fold could improve the voice.

Adolescent ; Adult ; Child ; Female ; Humans ; Laryngeal Diseases ; diagnosis ; pathology ; surgery ; Larynx ; pathology ; surgery ; Lipoid Proteinosis of Urbach and Wiethe ; diagnosis ; pathology ; surgery ; Male ; Skin ; pathology ; Young Adult