Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases

Френкель, Б. И.; Vered, Marilena; Taicher, Shlomo; Yarom, Noam

doi:10.1007/s00784-016-2017-7

Cited by 19 publications

(24 citation statements)

References 40 publications

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“…It is characterized by hyaline deposits in skin and mucous membranes of the upper aerodigestive tract and intracranial calcifications may be present. 1,2 Our patient displayed typical symptoms like hoarseness since birth, waxy yellow papules on the eyelid margins, hands, penis and scrotum as well as a thickened, papillomatous tongue and buccal mucosa. Furthermore, tongue protrusion was restricted ( Fig.…”

Section: Dear Editorsmentioning

confidence: 78%

“…Editor Screening for latent tuberculosis infection (LTBI) before and during treatment with a tumour necrosis factor (TNF) a inhibitor is recommended, as there is an increased risk of tuberculosis reactivation. 1,2 Regarding follow-up with tuberculin skin test (TST) of non-psoriatic patients under biological therapy, previous publications suggest that TST results are not modified. 3,4 A possible influence of biological therapy on TST results in patients with psoriasis has not yet been studied.…”

Section: Dear Editorsmentioning

confidence: 99%

See 1 more Smart Citation

Pyoderma gangrenosum in a patient with lipoid proteinosis (Urbach–Wiethe disease)

Pilz

Zink

Franz

et al. 2019

Acad Dermatol Venereol

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Section: Dear Editorsmentioning

confidence: 78%

Section: Dear Editorsmentioning

confidence: 99%

Pyoderma gangrenosum in a patient with lipoid proteinosis (Urbach–Wiethe disease)

Pilz

Zink

Franz

et al. 2019

Acad Dermatol Venereol

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“…1-2) Mucosal symptoms appear at birth or in the first few years of life. 11 Cutaneous manifestations usually arise during the first two years of life. 5 Neurpshychiatric symptoms of LP are more common in patients older than 10 years of age.…”

Section: Clinical Findingsmentioning

confidence: 99%

“…Almost any organ can be affected. [7][8][9][10][11] The affected individuals have a normal survey unless laryngeal obstruction develops. There is no precise and effective treatment of the disease.…”

Section: Introductionmentioning

confidence: 99%

Lipoid proteinosis

Aksoy

Öztürk

et al. 2021

Mucosa

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Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by the accumulation of an amorphous hyaline material in various regions of the body, including skin, mucous membranes, brain, internal organs. LP is caused by mutations in the gene encoding the extracellular matrix protein 1 (ECM1) found on chromosome 1q21. Although this disease is rare, it is more reported in areas where consanguineous marriages are common. During the infancy, it begins with hoarseness due to laryngeal infiltration. Gradually, skin and mucous changes become clinically evident. The affected individuals have a normal survey unless laryngeal obstruction develops. A multidisciplinary approach is recommended for monitoring these patients.

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“…Lipoid proteinosis (LP) known as Urbach and Wiethe disease and Hyalinosis cutis et mucosae, first reported by Urbach and Wiethe in 1929. [1,2] LP is an autosomal recessive inheritance causing deposition of hyaline material in skin, oral cavity and various organs. Involvement of larynx results in hoarseness of voice.…”

Section: Introductionmentioning

confidence: 99%

Lipoid Proteinosis - A Rarity in An Adult

Karthikeya Patil,

Sanjay CJ,

Mahima V Guledgud

et al. 2021

Indian Journal of Forensic Medicine & Toxicology

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Background: Lipoid proteinosis is a rare genodermatosis with autosomal recessive inheritance. It is a multisystem disorder characterized by progressive deposition of hyaline material in the skin, mucous membrane and different organs of the body. The disease is presented by dermatological, laryngeal, ophthalmological, and neurological manifestations. Involvement of oral mucosa may lead to xerostomia and dysphagia; involvement of larynx and eyes results in hoarseness of voice at early infancy and moniliform blepharosis. Extracutaneous involvement includes neurological manifestations like psychosis, partial complex seizures, anger, panic attacks, and progressive amnesia. Till date around 300 cases have been reported in literature.Case Report: A 63 years old male patient reported with chief complaints of pain in the right and left cheek region, difficulty in swallowing food and dryness of mouth. Conclusion:Lipoid Proteinosis requires multidisciplinary opinion and evaluation by dermatologists, ophthalmologists, otolaryngologists, neurologists and psychiatrist. Clinical features and histopathological evaluation aids in the confirmation of the disease. Lipoid proteinosis should be considered one among the differential diagnosis when patient reports with difficulty in mouth opening, enlarged tongue, difficult in chewing and swallowing.

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Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases

Abstract: The diagnosis of oLP with obscure extra-oral signs is challenging, with dental surgeons playing a key role in its establishment.

Cited by 19 publications

References 40 publications

Pyoderma gangrenosum in a patient with lipoid proteinosis (Urbach–Wiethe disease)

Pyoderma gangrenosum in a patient with lipoid proteinosis (Urbach–Wiethe disease)

Lipoid proteinosis

Lipoid Proteinosis - A Rarity in An Adult

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