Hereditary mucoepithelial dysplasia: Clinical, ultrastructural and genetic study of eight patients and literature review

British Journal of Dermatology

Volumn 153, Issue 2, 2005, Pages 310-318

  Boralevi, F ^a   Haftek, M ^b   Vabres, P ^c   Lepreux, S ^a   Goizet, C ^a   Leaute Labreze, C ^a   Taieb, A ^a  

^a HÔPITAL PELLEGRIN   (France)

^b UNIVERSITÉ LYON 1   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Gap junction; Hereditary mucoepithelial dysplasia; Keratitis; Keratosis pilaris; Non scarring alopecia

Indexed keywords

ACTIN; BETA CATENIN; BETA TUBULIN; CELL PROTEIN; CONNEXIN 26; CONNEXIN 32; CONNEXIN 43; CYTOSKELETON PROTEIN; DESMOGLEIN 1; DESMOGLEIN 2; DESMOPLAKIN; GAP JUNCTION PROTEIN; KERATIN; KERATIN ANTIBODY; MICROSATELLITE DNA; PLAKOGLOBIN; PROTEIN DESMOPLAKIN I; PROTEIN DESMOPLAKIN II; PROTEIN PLAKOPHILIN 1; UNCLASSIFIED DRUG; UVOMORULIN; VIMENTIN;

ALOPECIA; CELL ADHESION; CELL JUNCTION; CELL ULTRASTRUCTURE; CHROMOSOME 18Q; DARIER DISEASE; DESMOSOME; DNA SEQUENCE; DYSKERATOSIS; ELECTRON MICROSCOPY; GAP JUNCTION; GENE AMPLIFICATION; GENOTYPE; HEARING IMPAIRMENT; HEREDITARY MUCOEPITHELIAL DYSPLASIA; HISTOPATHOLOGY; HUMAN; HYPOTRICHOSIS; ICHTHYOSIS; IMMUNOCYTOCHEMISTRY; INTERTRIGO; KERATITIS; KERATOSIS; KERATOSIS PILARIS; MUCOCUTANEOUS CANDIDIASIS; ORAL BIOPSY; PHOTOPHOBIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSORIASIS; RECURRENT DISEASE; REVIEW; SEQUENCE ANALYSIS; SKIN BIOPSY; SKIN DISEASE; TONOFILAMENT;

ADOLESCENT; ALOPECIA; CHILD, PRESCHOOL; CONNEXINS; CYTOSKELETAL PROTEINS; ERYTHEMA; EXANTHEMA; FAMILY HEALTH; FEMALE; GINGIVA; HAPLOTYPES; HUMANS; MALE; MICROSCOPY, IMMUNOELECTRON; MOUTH DISEASES; MOUTH MUCOSA; PEDIGREE; PERINEUM;

EID: 24144445889     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2005.06664.x     Document Type: Review

References (36)

1. Witkop CJ, White JG, Sauk JJ, King RA. Clinical histologic, and ultrastructural characteristics of the oral lesions from hereditary mucoepithelial dysplasia. A disease of gap junction and desmosome formation. Oral Surg Oral Med Oral Pathol 1978; 46:645-57.
2. Witkop CJ, White JG, King RA et al. Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation. Am J Hum Genet 1979; 31:414-27.
3. Urban MD, Schosser R, Spohn W et al. New clinical aspects of hereditary mucoepithelial dysplasia. Am J Med Genet 1991; 39:338-41.
4. Scheman AJ, Ray DJ, Witkop CJ Jr, Dahl MV. Hereditary mucoepithelial dysplasia. Case report and review of the literature. J Am Acad Dermatol 1989; 21:351-7.
5. Rogers M, Kourt G, Cameron A. Hereditary mucoepithelial dysplasia. Pediatr Dermatol 1994; 11:133-8.
6. Rothe MJ, Lucky AW. Are ichthyosis follicularis and hereditary mucoepithelial dystrophy related diseases? Pediatr Dermatol 1995; 12:195.
7. Okamoto GA, Hall JG, Ochs H et al. New syndrome of mucocutaneous candidiasis. Birth Defects Orig Artic Series 1977; 13:117-25.
8. Senter TP, Jones KL, Sakati N, Nyhan WL. Atypical ichthyosiform erythroderma and congenital neurosensory deafness - a distinct syndrome. J Pediatr 1978; 92:68-72.
9. Scott DA, Kraft ML, Carmi R et al. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 1998; 11:387-94.
10. MacLeod JMH. Three cases of 'ichthyosis follicularis' associated with baldness. Br J Dermatol 1909; 21:165-89.
11. Zeligman I, Fleisher TL. Ichthyosis follicularis. Arch Dermatol 1959; 80:413-20.
12. Eramo LR, Esterly NB, Zieserl EJ et al. Ichthyosis follicularis with alopecia and photophobia. Arch Dermatol 1985; 121:1167-74.
13. Hamm H, Meinecke P, Traupe H. Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome. Eur J Pediatr 1991; 150:627-9.
14. Martino F, D'Eufemia P, Pergola MS et al. Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. Am J Med Genet 1992; 44:233-6.
15. Keyvani K, Paulus W, Traupe H et al. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man. Am J Med Genet 1998; 78:371-7.
16. König A, Happle R. Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia). Am J Med Genet 1999; 85:365-8.
17. Sato-Matsumura KC, Matsumura T, Kumakiri M et al. Ichthyosis follicularis with alopecia in a mother and daughter. Br J Dermatol 2000; 142:157-62.
18. Boente MC, Bibas-Bonet H, Coronel AM, Asial RA. Atrichia ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome? Eur J Dermatol 2000; 10:98-102.
19. Cambiaghi S, Barbareschi M, Taldini G. Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients. J Am Acad Dermatol 2002; 46:5156-8.
20. Rothe MJ, Weiss DS, Dubner BH et al. Ichthyosis follicularis in two girls: an autosomal dominant disorder. Pediatr Dermatol 1990; 7:287-92.
21. Burns FS. A case of generalized keratoderma with unusual involvement of the eyes and nasal and buccal mucous membranes. J Cutan Dis 1915; 33:255-60.
22. Skinner BA, Greist MC, Norris AL. The keratitis, ichthyosis and deafness (KID) syndrome. Arch Dermatol 1981; 117:285-9.
23. Gilliam A, Williams M. Fatal septicaemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome. Pediatr Dermatol 2002; 19:232-6.
24. Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C et al. Keratitis, ichthyosis and deafness (KID) syndrome: review of the literature and proposal of terminology. Pediatr Dermatol 1996; 13:105-13.
25. Nazzaro V, Blanchet-Bardon C, Lorette G, Civatte J. Familial occurrence of KID (keratitis, ichthyosis, deafness) syndrome: case reports of a mother and daughter. J Am Acad Dermatol 1990; 13:385-8.
26. Richard G, Rouan F, Willoughby CE et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis- deafness syndrome. Am J Hum Genet 2002; 70:1341-8.
27. Siemens HW. Keratosis follicularis spinulosa decalvans. Arch Dermatol Syphilol 1926; 151:384-7.
28. Rand R, Baden HP. Keratosis follicularis spinulosa decalvans. Arch Dermatol 1983; 119:22-6.
29. Porteous ME, Strain L, Logie LJ et al. Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-22 2 J Med Genet 1998; 35:336-7.
30. Witkop CJ Jr, White JG, Waring GO. Hereditary mucoepithelial dysplasia, a disease of gap junction and desmosome formation. Birth Defect Orig Artic Series 1982; 18:493-511.
31. Salomon D, Masgrau E, Vischer S et al. Topography of mammalian connexins in human skin. J Invest Dermatol 1994; 103:240-7.
32. Haftek M, Kowalewski C, Mesnil M et al. Internalization of gap junctions in benign familial pemphigus (Hailey-Hailey disease) and keratosis follicularis (Darier's disease). Br J Dermatol 1999; 141:224-30.
33. Richard G, White TW, Smith LE et al. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 1998; 103:393-9.
34. Maestrini E, Korge BP, Ocana-Sierra J et al. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet 1999; 8:1237-43.
35. Puppin D, Aractingi S, Dubertret L, Blanchet-Bardon C. Keratosis follicularis spinulosa decalvans: report of a case with ultrastructural study and unsuccessful trial of retinoids. Dermatology 1992; 184:133-6.
36. Gimelli G, Giglio S, Zuffardi O et al. Gene dosage of the spermidine/spermine N(1)-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). Hum Genet 2002; 111:235-41. Epub 2002 Aug 01.