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July 2011

Widespread Papules and Indurated Plaques on a 43-Year-Old Man —Diagnosis

Author Affiliations
 

SECTION EDITOR: MARY S. STONE, MD; ASSISTANT SECTION EDITORS: SOON BAHRAMI, MD; CARRIE ANN R. CUSACK, MD; SENAIT W. DYSON, MD; MOLLY A. HINSHAW, MD; ARNI K. KRISTJANSSON, MD

Arch Dermatol. 2011;147(7):857-862. doi:10.1001/archdermatol.2011.164-b

Histopathologic examination of a biopsy specimen from the patients' hands revealed periodic acid –Schiff positive but diastase-resistant basement membrane thickening at the dermoepidermal junction, surrounding blood vessels and adnexal epithelia, and deposition or accumulation of hyaline material in the papillary dermis (Figure 4).

To our knowledge, only 300 cases of this rare genodermatosis have been described in the literature.1 LiP, also known as hyalinosis cutis et mucosae, was first reported in Germany in 1929 by Urbach and Wiethe2 and is characterized by deposition of hyaline material into the skin, oral cavity, larynx, and internal organs. This entity is an autosomal recessive disorder and is caused by loss-of-function mutations in the gene encoding extracellular matrix protein-1 (ECM1).3 The most reliable clinical findings for diagnosing LiP are hoarseness of voice, beaded eyelid papules (moniliform blepharosis), thickened sublingual frenulum with woody tongue, and acneiform scars. Hoarseness of voice usually develops soon after birth or in the first year of life and is the most striking clinical sign.4 Wet climate –agravated hoarseness is characteristic. Secondary features include warty papules and nodules of the skin, yellowish-white plaques on the oral mucosa, and generalized skin thickening. Hyperkeratosis may appear in regions exposed to mechanical friction, such as the hands, elbows, knees, buttocks, and axillae. Cutaneous manifestations usually appear at 2 to 3 years of age with 2 different stages: the vesiculoerosive phase and the hyperkeratotic phase, which both can overlap. Some cases present neurologic abnormalities, such as epilepsy, neuropsychiatric symptoms, mental retardation, and behavioral changes.5 Radiologic findings may show pathognomonic, bilateral, symmetrical, and intracranial bean-shaped calcifications within the hippocampal region of the temporal lobes. The abnormal deposition of hyaline material has been detected histopathologically in many internal organs, even sometimes causing respiratory difficulty and requiring tracheostomy.6 LiP needs to be differentiated from erytropoietic protoporphyria as well as amyloidosis. Different therapeutic modalities have been proposed with little efficacy, such as systemic steroids, D-penicillamine, surgical procedures, intralesional heparin sodium injection, carbon dioxide laser, etretinate, acitretin, and dimethyl sulfoxide. LiP usually has a benign course, and patients have a normal life expectancy, aside from the risks of respiratory obstruction.

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