Abnormal lamellar granules in a case of CHILD syndrome

Journal of Cutaneous Pathology

Volumn 33, Issue 6, 2006, Pages 447-453

  Ishibashi, Masafumi ^a   Matsuda, Fumio ^a   Oka, Hiroshi ^a   Ishiko, Akira ^a  

^a KEIO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CELL VACUOLE; CONGENITAL HEMIDYSPLASIA WITH ICTHYOSIFORM ERYTHODERMA AND LIMB DEFECT; DERMIS; ELECTRON MICROSCOPY; FEMALE; HISTOLOGY; HUMAN; HYPOPLASIA; ICHTHYOSIS; INTERCELLULAR SPACE; STRATUM CORNEUM; X RAY; XANTHOMA;

ABNORMALITIES, MULTIPLE; ADULT; CYTOPLASMIC GRANULES; FEMALE; FOAM CELLS; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; IMMUNOHISTOCHEMISTRY; KERATINOCYTES; LIMB DEFORMITIES, CONGENITAL; MICROSCOPY, ELECTRON, TRANSMISSION; SYNDROME; XANTHOMATOSIS;

EID: 33744986702     PISSN: 03036987     EISSN: 16000560     Source Type: Journal    
DOI: 10.1111/j.0303-6987.2006.00470.x     Document Type: Article

References (20)

1. Happle R Koch H Lenz W. The CHILD syndrome: congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr 1980 134: 27.
2. König A Happle R Bornholdt D Engel H Grzeschik KH. Mutations in the NSDHL gene, encoding a 3β-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 2000 90: 339.
3. Zellweger VH Uehlinger E. Ein Fall von halbseitiger Knochenchondromatose (Ollier) mit Naevus ichthyosiformis. Helv Paediatr Acta 1948 2: 153.
4. Happle R Mittag H Küster W. The CHILD nevus: a distinct skin disorder. Dermatology 1995 191: 210.
5. Zegarelli DJ Zegarelli-Schmidt EC Zegarelli EV. Verruciform xanthoma. Further light and electron microscopic studies, with the addition of a third case. Oral Surg Oral Med Oral Pathol 1975 40: 246.
6. Mohsin SK Lee MW Amin MB, et al. Cutaneous verruciform xanthoma: a report of five cases investigating the etiology and nature of xanthomatous cells. Am J Surg Pathol 1998 22: 479.
7. Kanitakis J Euvrard S Butnaru AC Claudy A. Verruciform xanthoma of the scrotum in a renal transplant patient. Br J Dermatol 2004 150: 161.
8. Nanko H Nagashima Y Ikeda M Inoue T Fukuda S. Verruciform xanthoma of scrotum: electron microscopic study (in Japanese). Annual Bul Kosei-Nenkin Hospitals 1998 25: 107.
9. Hebert AA Esterly NB Holbrook KA Hall JC. The CHILD syndrome: histologic and ultrastructural studies. Arch Dermatol 1987 123: 503.
10. Dale BA Kimball JR Fleckman P, et al. CHILD syndrome: lack of expression of epidermal differentiation markers in lesional ichthyotic skin. J Invest Dermatol 1992 98: 442.
11. Hashimoto K Prada S Lopez AP Hoyos JG Escobar M. CHILD syndrome with linear eruptions, hypopigmented bands, and verruciform xanthoma. Pediatr Dermatol 1998 15: 360.
12. Hashimoto K Topper S Sharata H Edwards M. CHILD syndrome: analysis of abnormal keratinization and structure. Pediatr Dermatol 1995 12: 116.
13. Chavanas S Bodemer C Rochat A, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000 25: 141.
14. Fartasch M Williams ML Elias PM. Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: differentiation from other infantile erythrodermas and pathogenic implications. Arch Dermatol 1999 135: 823.
15. Kelsell DP Norgett EE Unsworth H, et al. Mutations in ABCA12 underlie the severe congenital skin disease Harlequin ichthyosis. Am J Hum Genet 2005 76: 794.
16. Akiyama M Sugiyama-Nakagiri Y Sakai K, et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 2005 115: 1777.
17. Milner ME O'Guin WM Holbrook KA Dale BA. Abnormal lamellar granules in harlequin ichthyosis. J Invest Dermatol 1992 99: 824.
18. Akiyama M Kim DK Main DM Otto CE Holbrook KA. Characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells. J Invest Dermatol 1994 102: 210.
19. Lefevre C Jobard F Caux F, et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin - Dorfman syndrome. Am J Hum Genet 2001 69: 1002.
20. Akiyama M Sawamura D Nomura Y Sugawara M Shimizu H. Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. J Invest Dermatol 2003 121: 1029.