Punctal and peri-punctal involvement in Urbach-Wiethe syndrome: case report and review of literature.

Urbach-Weithe syndrome is an exceedingly rare multisystem disorder characterized by pathognomonic clinical findings of multiple beaded papules along the eyelid margins and peri-ocular areas and hoarseness of voice secondary to intercellular deposition of periodic acid Schiff (PAS)-positive hyaline material. Lacrimal drainage anomalies are not well defined in this syndrome; however, punctal involvement and acquired nasolacrimal duct obstructions have been reported. We present a patient of Urbach-Weithe syndrome with bilateral punctal and peri-punctal involvement.

Treatment of lipoid proteinosis with ablative Er:YAG laser resurfacing.

Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by deposition of amorphous hyaline material in different parts of the body, especially the skin and mucous membranes. Disfiguring lesions predominantly affect facial appearance. There is no curative therapy and treatment options are limited to symptomatic approaches. Facial disfigurement in this disease may have an huge negative effect on the patients' psychology and quality of life. With this regard, the patients may benefit very much from symptomatic treatments. Four patients with LP were treated with Er:YAG laser to ablate disfiguring lesions on the face. Patients were followed up for 14 months to 2 years. We obtained favorable clinical and aesthetic results in all cases with Er:YAG laser treatment and did not observe any recurrences during the follow-up. Depending on our observations Er-YAG laser can be accepted as an effective tool for dermal accumulations and scars of LP with precise ablation capability and favorable esthetic results.

Vocal fold hyalinosis in Urbach-Wiethe disease, a rare cause of hoarseness.

BACKGROUND: Lipoid proteinosis is an autosomal recessive disorder characterized by hyalin deposits in the skin and mucosa of the upper aerodigestive tract; currently, no treatment exists. Nearly all patients experience hoarseness and speech difficulties, due to hyalin deposition in the vocal folds and diminished mobility in infiltrated lips, tongue, and palate. METHODS: We describe a patient with extensive hyalin plaques on the vocal folds, which resulted in near-aphonic hoarseness. Hyalin deposits in the vocal folds and skin were treated with laser resection. RESULTS: Both the vocal folds and skin improved in appearance, with smoother surface epithelium. However, the patient's speech remained impaired, due to extensive hyalin plaques in the mouth, tongue, and lips. The voice improved only temporarily. CONCLUSIONS: Laser resection of hyalin plaques in the vocal folds and skin is a feasible treatment for lipoid proteinosis. However, speech may remain severely limited, due to impaired tongue and lip movement.

Eyelid lesions in lipoid proteinosis or Urbach-Wiethe disease: case report and review of the literature.

Lipoid proteinosis (LP) or Urbach-Wiethe disease is a recessively inherited disorder not usually seen by ophthalmologists. It is characterized by non-inflammatory, persistent papules on the skin and mucous membranes. The first clinical manifestation of LP is usually progressive hoarseness. The lid lesions, consisting of beaded papules along the lid margins (moniliform blepharosis), are considered almost pathognomonic of the disease. The interesting clinical and histopathological features of LP are described in a 45-year-old man with a history of lipoid proteinosis, who presented to us for evaluation of ocular discomfort and unusual multiple eyelid lesions. We surgically removed all the eyelid lesions. The histologic findings were consistent with LP. Knowledge of the typical eyelid lesions may help to diagnose many typical or atypical cases of LP, although biopsy confirmation is always necessary. In our experience, the surgical removal of the eyelid lesions seems to be curative and due to the amount of eyelid lesions that can be developed, it is recommended to initiate an early treatment as soon as possible to avoid postoperative deformities.

The management of laryngeal lipoid proteinosis.

BACKGROUND: Lipoid proteinosis is a rare autosomal recessive disorder caused by mutations in the extracellular matrix protein 1 gene. It is characterised by deposition of hyaline material in the skin and mucous membranes. This paper describes the management of two cases with laryngopharyngeal disease. METHODS: Two patients with a biopsy diagnosis of lipoid proteinosis were identified from the surgical pathology archive covering the period 2004-2016. Their notes were reviewed. RESULTS: An adult male and an adult female were identified. Both had dysphonia and laryngopharyngeal lesions. The patients underwent interval laser microlaryngoscopy to debulk disease but minimise mucosal injury and scarring, using a 'pepper pot' technique. Both had adequate symptom control. CONCLUSION: Lipoid proteinosis is a rare genetic condition, which typically presents in infancy with dysphonia and subsequent skin involvement. Two cases are presented to demonstrate that laryngotracheal symptoms can be controlled with interval laser debulking and the 'pepper pot' technique without causing stenosis.

Hyalinosis cutis et mucosae.

Hyalinosis cutis et mucosae is a rare autosomal recessive disorder which is characterized by deposition of hyaline material around the basement membrane of the skin and mucous membranes. Typical clinical symptoms are hoarseness, infiltration of the mucous membranes and papular verrucous skin changes. Mutations within the extracellular matrix protein gene (ECM-1) are the underlying defect. We report on a 24-year-old man, who had first been seen in our department at the age of seven and had undergone the necessary diagnostic procedures and who revisited 17 years later with hoarseness and extensive verrucous skin changes at elbows and knees which were removed by excision. A new mutation of the ECM1 gene was identified.

[Lipoid proteinosis in the mouth and laryngeal structures: a case report]. / Agiz ve larenkste lipoid proteinozis: Olgu sunumu.

Lipoidproteinosis is an uncommon autosomal recessive disorder characterized by accumulation of hyaline material in the skin, oral and laryngeal mucosa. A 23-year-old woman presented with complaints of hoarseness and dryness of the mouth. Yellowish papular deposits were noted in the oral and laryngeal mucosa on physical examination, and in vocal cords and laryngeal structures during laryngoscopy. The lesions were removed and histopathologic diagnosis was made as lipoidproteinosis. A slight improvement was obtained in hoarseness. A control examination after two years showed an increase in the extent of hoarseness and new deposits in the vocal cords. The lesions were removed by microlaryngeal surgery.

Late onset hyalinosis cutis et mucosae.

Two cases of non-familial, late onset (50 and 62-years-old) hyalinosis cutis et mucosae were studied and compared with classical early onset cases. Late onset cases showed essentially the same histological and ultrastructural features described for early onset cases. The late onset variety should be distinguished from other diseases; they resemble systemic amyloidosis and sometimes the adult form of colloid milium.

Lipoid proteinosis of the larynx: a cause of voice change in the infant and young child.

Lipoid proteinosis is an autosomal recessive disorder that may display multiple systemic manifestations involving mucosal deposition of hyalin material. Skin and upper aerodigestive tract mucosal involvement predominate. In approximately two thirds of cases, voice change secondary to laryngeal involvement occurring at birth or early in infancy is the first manifestation of the disease.

[Manifestation and treatment of lipoid proteinosis in larynx].

OBJECTIVE: To investigate the manifestation, characteristics and treatment of lipoid proteinosis (LP) in larynx. METHODS: Sixteen 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. RESULTS: One 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. CONCLUSIONS: One 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.

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

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.

[Lipoid proteinosis: importance of dermabrasion. Apropos of a case]. / Lipoïdo-protéinose: intérêt de la dermabrasion. A propos d'un cas.

The authors report case of lipoid proteinosis. This is an autosomal recessive genetic disease involving the skin and mucous membranes. Skin lesions have a granular appearance, with infiltration and wrinkling of the skin, especially on the face. The authors show the success of dermabrasion on skin lesions on the face of a 21-year-old girl displaying typical symptoms of lipoid proteinosis.

Lipoidoproteinose / Lipoid proteinosis

OBJETIVO: Apresentar as características clínicas, tratamento cirúrgico e achado histológico de um caso de lipoidoproteinose. DESCRIÇÃO DO CASO: Criança do sexo masculino, cinco anos de idade, branco, que procurou atendimento odontológico na Universidade. A mãe da criança relatou presença de intensa halitose e dificuldade na alimentação e higienização bucal, decorrentes de crescimento gengival generalizado nos arcos dentários superior e inferior. No exame clínico, verificaram-se comprometimento funcional e estético generalizado (rouquidão, artralgia bilateral no joelho e tornozelo, lesões tumorais nas orelhas, entre outros), além de extensa hiperplasia gengival em ambos os arcos dentários. Optou-se pelo tratamento cirúrgico, com remoção do tecido hiperplásico e exodontia de todos os dentes decíduos e de dois permanentes. O exame histopatológico da peça cirúrgica confirmou o diagnóstico de lipoidoproteinose. COMENTÁRIOS: A lipoidoproteinose é uma doença rara caracterizada pela deposição da substância hialina na pele, membranas mucosas e nos órgãos internos. Os sinais que podem surgir após o nascimento, são: rouquidão; lesões pápulo-nodulares na cabeça, pescoço e membros; lesões papulares amareladas nas margens das pálpebras. O curso desta doença é benigno e crônico.

OBJECTIVE: Report clinical characteristics, histological findings and treatment of a patient with lipoid proteinosis. CASE DESCRIPTION: Five year-old male patient was assisted in the university clinic for dental treatment. The mother reported the presence of intense halitosis and difficulties for feeding and oral hygiene due to extensive gingival hyperplasia on the maxillary and mandibular arches. Clinical examination revealed generalized functional and esthetic involvement, including hoarseness; bilateral knee and ankle arthralgia; tumoral lesions on the ears and gingival hyperplasia throughout the extent of both dental arches. The surgical treatment removed the hyperplastic tissue and all deciduous teeth, as well as two permanents teeth. Histopathological examination of the specimen confirmed the diagnosis of lipoid proteinosis. COMMENTS: Lipoid proteinosis is a rare disorder characterized by progressive deposition of hyaline material in the skin, mucous membranes and organs. Clinical signs appear after birth and are characterized by hoarseness, papulonodular lesions on the head, neck and limbs and yellowish papules on the eyelid margins, among others. The disease has a benign and chronic evolution.