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Lipoid proteinosis (Urbach-Wiethe disease): a case report from India.

Abstract

Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal-recessive anomaly that primarily affects the skin and the mucosa of the upper aerodigestive tract in children. It is caused by hyaline deposits in tissues. Hoarseness secondary to laryngeal involvement is frequently the first presenting feature. It is important to consider this disease in the differential diagnosis of hoarseness because it might lead to life-threatening airway compromise. We report a case of lipoid proteinosis in a 12-year-old girl who presented with hoarseness and skin lesions.

Introduction

Lipoid proteinosis, which is also known in the literature as Urbach- Wiethe disease and hyalinosis cutis et mucosae, is a rare autosomal-recessive anomaly that primarily affects children. (1) It was first reported by the Swiss otolaryngologist Siebenmann (2) in 1908 and described in detail by Urbach and Wiethe (3) of Vienna in 1929. Since then, more than 300 cases have been reported in the literature.

The underlying pathology of this disease is a defect in the metabolism of basement membrane collagen. The result of this defect is a diffuse mucosal deposition of hyaline material and lipids, predominantly in the upper aerodigestive tract, that leads to symptoms of hoarseness and skin eruptions. We report a case of lipoid proteinosis in a 12-year-old girl who came to us for evaluation of hoarseness.

Case report

A 12-year-old girl born of nonconsanguineous parents presented with a complaint of hoarseness since infancy. She also had a history of easy voice fatigue, hut no dysphagia or dyspnea. She had experienced a spontaneous eruption of pock-like lesions on her face, eyelids (moniliform blepharosis), and elbows 5 years earlier. The lesions had healed, but they left visible scars on the face and yellowish granular deposits along the edges of both eyelids (figure, A). Intraoral examination revealed that the oral and pharyngeal mucosa was pale with visible diffuse yellowish patches, and the tongue appeared bulky (figure, B). None of the patient's four siblings had experienced any similar signs or symptoms.

Fiberoptic examination of the larynx revealed that the mucosa of the epiglottis, arytenoids, and vocal folds was very pale. A phonatory gap could be seen on adduction; this gap was reflective of poor vocal fold movement secondary to an increase in vocal fold mass and stiffness. The remainder of the larynx, including the piriform sinus, and the remainder of the systemic examination, including the nervous system, were normal. Findings on examination of both eyes, including the fundus, were also normal with the exception of the deposits on the eyelids. Finally, vision testing revealed that the patient's visual acuity was normal. To rule out tuberculosis, the patient underwent a tuberculin test and provided nasal smears for acid-fast bacilli; both tests were negative.

Multiple biopsy samples were obtained from the palate, skin lesions, and normal-appearing skin. Analysis of both palatal mucosa and skin specimens on periodic acid--Schiff (PAS) staining revealed hyaline deposits of PAS-positive material extracellularly in the dermis, subcutaneous tissue, and vessel walls. The vessels were dilated, their walls were thickened, and there was a progressive hyalinization of the sweat glands. The deposits were also found to be diastase-resistant.

On the basis of the biopsy findings, a diagnosis of lipoid proteinosis was made. An x-ray of the skull was obtained, but no calcification was seen in the region of the sella as would be expected in such cases. The patient underwent microlaryngeal surgery to reduce the bulk of the tissue in the vocal folds and interarytenoid areas. Follow-up at 6 months revealed that her voice had improved considerably and the mucosal lesions appeared to be lessening. She has not reported any symptoms since then.

[FIGURE OMITTED]

Discussion

Being a disease of autosomal-recessive inheritance, lipoid proteinosis usually affects more than one family member. We did not identify this disease in any other member of our patient's immediate family.

As mentioned, the defective metabolism of basement membrane collagen affects the skin and the mucosa, primarily the mucosa of the upper aerodigestive tract. Extensive dermal and submucosal deposition of hyaline and PAS-positive, diastase-resistant glycoprotein with interspersed lipoid deposits are noted. (4) A portion of lipoid deposits has been demonstrated to consist of type IV basement membrane collagen.

Hoarseness and skin eruptions early in life are generally the first presenting features of this disease. Hoarseness is progressive and may be associated with a weak cry. The hoarseness occurs as a result of an impaired wave formation secondary to deposition of subepithelial hyaline material leading to an incomplete closure of the vocal folds with air leakage during phonation. The earliest hyaline deposition occurs in the larynx, which accounts for the fact that hoarseness is the presenting symptom in most cases.

Skin features may appear later or not at all. The most common feature is moniliform blepharosis, which manifests as bead-like papules on the edges of the eyelids. Acne-like "icepick" lesions are usually present on the forehead, elbows, and axillae. (5,6) The tongue is firm and bulky, and its mobility may be restricted. Lesions may occur on the soft palate, uvula, epiglottis, and aryepiglottic folds.

Other associated symptoms may include alopecia, recurrent parotitis (secondary to involvement of the Stensen duct), dysphagia, neurologic manifestations (e.g., grand mal seizures), memory loss, and schizophrenia. (7) In 70% of cases, bilateral sickle-shaped calcifications in the temporal lobes of the brain are seen on computed tomography. (8) Clinically, the differential diagnosis includes xanthomatosis, colloid milium, myxedema, and amyloidosis.

The prognosis is variable, but life expectancy is normal. No proven symptomatic or curative treatment is known. In 1988,Wong and Lin (9) reported a case in which oral dimethyl sulfoxide (DMSO) showed benefit after 3 years of use, but recent studies have not corroborated that benefit. In 2002, Kaya et al reported a case in which D-penicillamine at 600 mg/day produced a modest clinical benefit and relieved symptoms for a period of time. (10) However, there are no further reports of its use in the treatment of this condition.

Surgery (microlaryngeal surgery and tracheostomy) has a role in preventing death in cases when serious respiratory obstruction occurs. Other procedures to treat the effects of lipoid proteinosis include dermabrasion, chemical peeling, surgical resection of plaques on the vocal folds, and blepharoplasty.

In conclusion, this benign but progressive disease may be overlooked as a cause of hoarseness. Once this condition is recognized, the physician should reassure patients and their families regarding the prognosis and be watchful for the onset of respiratory obstruction. Although lipoid proteinosis is essentially reported as a dermatologic problem, its earliest feature is often hoarseness, so the otolaryngologist should be mindful of the possibility.

References

(1.) Hamada T. Lipoid proteinosis: Clin Exp Dermatol 2002;27(8): 624-9.

(2.) Siebenmann F. Uber Mitbeteiligung der Schleimhaut bei algemeiner Hyperkeratose der Haut. Arch Laryngol Rhinol 1908;20:101-9.

(3.) Urbach E, Wiethe C. Lipodosis cutis et mucosae. Virchows Arch Pathol Anat 1929;273:285-319.

(4.) Eleischmajer R, Timpl R, Graves P, et al. Hyalinosis cutis et mucosae. A basal lamina disease [abstract]. J Invest Dermatol 1981;76: 314-15.

(5.) Hofer PA. Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). A review. Acta Derm Venereol Suppl (Stockh) 1973;53:1-52.

(6.) Sethuraman G, Tejasvi T, Khaitan BK, et al. Lipoid proteinosis in two siblings: A report from India. J Dermatol 2003;30(7):562-5.

(7.) Chakrabarti K, Sengupta SK, Ghosh AK, Das SK. Lipoid proteinosis (Urbach-Wiethe syndrome) with dwarfism. Indian Pediatr 1991; 28(1):75-8.

(8.) Emsley RA, Paster L. Lipoid proteinosis presenting with neuropsychiatric manifestations. J Neurol Neurosurg Psychiatry 1985;48 (12): 1290-2.

(9.) Wong CK, Lin CS. Remarkable response of lipoid proteinosis to oral dimethyl sulphoxide. Br J Dermatol 1988;119(4):541-4.

(10.) Kaya TI, Kokturk A, Tursen U, et al. D-penicillamine treatment for lipoid proteinosis. Pediatr Dermatol 2002;19(4):359-62.

Kadambari Batra, DLO, DNB; Anil Safaya, MS; Kiran Aggarwal, MS

From the Department of Ear Nose and Throat-Head and Neck Surgery, Vardhman Mahaveer Medical College and Safdarjung Hospital, New Delhi, India.

Corresponding author: Dr. Kadambari Batra, J-37, Sector 25, NOIDA, Uttar Pradesh, India. Phone: 91-981-105-9479; fax: 91-120-253 -4648; e-mail: kadambaribatra@gmail.com or drkadambari@rediffmail. com
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Title Annotation:ORIGINAL ARTICLE
Author:Batra, Kadambari; Safaya, Anil; Aggarwal, Kiran
Publication:Ear, Nose and Throat Journal
Article Type:Clinical report
Geographic Code:9INDI
Date:Sep 1, 2008
Words:1344
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