Multiple giant pilomatricoma in familial Sotos syndrome

Pediatric Dermatology

Volumn 25, Issue 1, 2008, Pages 122-125

  Gilaberte, Yolanda ^a   Ferrer Lozano, Marta ^a   Oliván, María Jesús ^a   Coscojuela, Carmen ^a   Abascal, Manuel ^a   Lapunzina, Pablo ^b  

^a HOSPITAL SAN JORGE   (Spain)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CATENIN; NUCLEAR PROTEIN;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; FAMILIAL DISEASE; GENE DELETION; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MULTIPLE CANCER; PHYSICAL EXAMINATION; PILOMATRIXOMA; PRIORITY JOURNAL; SCHOOL CHILD; SOTOS SYNDROME;

BIOPSY, NEEDLE; CHILD; CRANIOFACIAL ABNORMALITIES; FACIES; FOLLOW-UP STUDIES; GIGANTISM; HAIR DISEASES; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; PEDIGREE; PILOMATRIXOMA; SEVERITY OF ILLNESS INDEX; SKIN NEOPLASMS; SYNDROME; TREATMENT OUTCOME;

EID: 39849096263     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2007.00602.x     Document Type: Article

References (30)

1. Cole TR, Hughes HE. Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet 1994 31 : 20 32.
2. Kurotaki N, Imaizumi K, Harada N et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002 30 : 365 366.
3. van Haelst MM, Hoogeboom JJ, Baujat G et al. Familial gigantism caused by and NSD1 mutation. Am J Genet A 2005 139 : 40 44.
4. Niikawa N. Molecular basis of Sotos syndrome. Horm Res 2004 62 (Suppl. 3 60 65.
5. Lapunzina P. Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. Am J Med Genet C Semin Med Genet 2005 137 : 53 71.
6. Yule SM. Cancer in Sotos syndrome. Arch Dis Child 1999 80 : 493.
7. Fernandes R, Holmes J, Mullenix C. Giant pilomatricoma (epithelioma of Malherbe): report of a case and review of literature. J Oral Maxillofac Surg 2003 61 : 634 636.
8. Cigliano B, Baltogiannis N, De Margo M et al. Pilomatricoma in childhood: a retrospective study from three European paediatric centres. Eur J Pediatr 2005 164 : 673 677.
9. Pirouzmanesh A, Reinisch JF, González-Gómez I et al. Pilomatrixoma: a review of 346 cases. Plast Reconstr Surg 2003 112 : 1784 1789.
10. Sari A, Yavuzer R, Isik I et al. Atypical presentation of pilomatricoma: a case report. Dermatol Surg 2002 28 : 603 605.
11. Hubbard VG, Whittaker SJ. Multiple familial pilomatricomas: an unusual case. J Cutan Pathol 2004 31 : 281 283.
12. Pujol RM, Casanova JM, Egido R et al. Mutiple familial pilomatricomas: a cutaneous marker for Gardner syndrome? Pediatr Dermatol 1995 12 : 331 335.
13. Harper PS. Calcifying epithelioma of Malherbe: association with myotonic muscular dystrophy. Arch Dermatol 1972 106 : 41 44.
14. Miller RW, Rubinstein JH. Tumors in Rubinstein-Taybi syndrome. Am J Med Genet 1995 56 : 112 115.
15. Noguchi H, Kayashima K, Nishiyama S et al. Two cases of pilomatrixoma in Turner's syndrome. Dermatology 1999 340 : 338 340.
16. Matsuura H, Hatamochi A, Nakamura Y et al. Múltiple pilomatricoma in trisomy 9. Dermatology 2002 204 : 82 83.
17. Camiña Catala I, Lapetra Bernardos C, Rueda García JA et al. Multiple pilomatrixomas associated with celiac disease. An Pediatr (Barc) 2004 60 : 381 382.
18. Baglioni S, Melean G, Gensini F et al. A kindred with MYH-associated polyposis and pilomatricomas. Am J Med Genet A 2005 134 : 212 214.
19. Aslan G, Erdogan B, Akoz T et al. Multiple occurrence of pilomatrixoma. Past Reconstr Surg 1996 98 : 510 513.
20. Jang HS, Jung-Hum P, Mun-Bum K et al. Two cases of multiple giant pilomatricoma. J Dermatol 2000 27 : 276 279.
21. Moreno-Bueno G, Gamallo C, Pérez-Gállego L et al. β-catenin expresión in pilomatrixomas. Relationship with β-catenin gene mutations and comparison with β-catenin expression in normal hair follicles. Br J Dermatol 2001 145 : 576 581.
22. de Boer L, Kant SG, Karperien M et al. Genotype-phenotype correlation in patients suspected of having Sotos syndrome. Horm Res 2004 62 : 197 207.
23. Kurotary N, Harada N, Yoshiura K et al. Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. Gene 2001 279 : 197 204.
24. Krausen AS, Ansel DG, Mays BR Jr. Pilomatrixoma marquerading as a parotid mass. Laryngoscope 1974 84 : 528 535.
25. Sasaki CT, Yue A, Enriques R. Giant calcifying epithelioma. Arch Otolaryngol 1976 102 : 753 755.
26. Rothman D, Kendall AB, Baldi A. Giant pilomatrixoma (Malherbe calcifying epithelioma). Arch Surg 1976 111 : 86 87.
27. Brandner MD, Bunkis J. Pilomatrixoma presenting as a parotid mass. Plast Reconstr Surg 1986 78 : 518 521.
28. Arole G, Mosadomi A, Arain AH. Calcifying epithelioma de Malherbe (pilomatrixoma of the cheek). J Oral Maxillofac Surg 1983 41 : 121 125.
29. Sevin K, Can Z, Yilmaz S et al. Pilomatrixoma of the earlobe. Dermatol Surg 1995 21 : 245 246.
30. Yuca K, Kutluhan A, Cankaya H et al. Giant pilomatrixoma arising in the preauricular region: a case report. Kulak Burun Bogaz Ihtis Derg 2004 12 : 147 149.