Literature DB >> 6210239

Hyalinosis cutis et mucosae in siblings.

E Haneke, O P Hornstein, M Meisel-Stosiek, W Steiner.   

Abstract

Hyalinosis cutis et mucosae is a rare autosomal recessive disorder of unknown aetiology. Clinical features are hoarseness from early infancy and yellowish papules and plaques in mucous membranes and skin. Light and electron microscopy demonstrates accumulation of PAS-positive material around blood vessels and in the dermis. This substance probably derives from glycoproteins of basement membranes. Carbon dioxide laser surgery of thickened vocal cords proved to be effective for the treatment of hoarseness.

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Year:  1984        PMID: 6210239     DOI: 10.1007/bf00292598

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  9 in total

1.  [Pathogenesis and clinical aspects of hyalinosis of the skin and mucosa (Urbach-Wiethe lipoid proteinosis)].

Authors:  K H HOLTZ; W SCHULZE
Journal:  Arch Dermatol Syph       Date:  1951

2.  Hyalinosis cutis et mucosae. An electron microscopic study.

Authors:  K Hashimoto; G Klingmüller; O E Rodermund
Journal:  Acta Derm Venereol       Date:  1972       Impact factor: 4.437

3.  Lipoid proteinosis: case report of direct lineal transmission.

Authors:  A R Rosenthal; J R Duke
Journal:  Am J Ophthalmol       Date:  1967-12       Impact factor: 5.258

4.  Hyalinosis cutis et mucosae. Defective digestion and storage of basal lamina glycoprotein synthesized by smooth muscle cells.

Authors:  A Ishibashi
Journal:  Dermatologica       Date:  1982-07

5.  Urbach-Wiethe disease. Light and electron microscopic study.

Authors:  G Fabrizi; B Porfiri; M Borgioli; F Serri
Journal:  J Cutan Pathol       Date:  1980-02       Impact factor: 1.587

6.  Lipoid proteinosis: in vivo and in vitro evidence for a lysosomal storage disease.

Authors:  E A Bauer; D J Santa-Cruz; A Z Eisen
Journal:  J Invest Dermatol       Date:  1981-02       Impact factor: 8.551

7.  Lipoid proteinosis.

Authors:  H Gordon; W Gordon; V Botha; I Edelstein
Journal:  Birth Defects Orig Artic Ser       Date:  1971-06

Review 8.  Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). A review.

Authors:  P A Hofer
Journal:  Acta Derm Venereol Suppl (Stockh)       Date:  1973

9.  [Clinical picture and pathogenesis of hyalinosis cutis et mucosae (Lipid proteinosis Wiethe-Urbach)].

Authors:  W BRAUN; H WEYHBRECHT
Journal:  Arch Dermatol Syph       Date:  1952-09
  9 in total
  3 in total

Review 1.  Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases.

Authors:  Boaz Frenkel; Marilena Vered; Shlomo Taicher; Noam Yarom
Journal:  Clin Oral Investig       Date:  2016-11-29       Impact factor: 3.573

2.  Two Egyptian cases of lipoid proteinosis successfully treated with acitretin.

Authors:  Ola Ahmed Bakry; Rehab Monir Samaka; Nanees Shawky Houla; Mohamed Ahmed Basha
Journal:  J Dermatol Case Rep       Date:  2014-03-31

3.  Acitretin treatment for lipoid proteinosis.

Authors:  Ozgür Gündüz; Neriman Sahiner; Pınar Atasoy; Cağrı Senyücel
Journal:  Case Rep Dermatol Med       Date:  2012-08-09
  3 in total

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