Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene

  • Turkan Patiroglu Department of Pediatric Immunology, Erciyes University School of Medicine, Kayseri, Turkey
  • H Haluk Akar Mail Department of Pediatric Immunology, Erciyes University School of Medicine, Kayseri, Turkey
Keywords:
C16orf57 gene, Poikiloderma with neutropenia syndrome, Siblings

Abstract

Clericuzio-type poikiloderma with neutropenia (PN) is characterized by poikiloderma, non-cyclic  neutropenia,  recurrent  sinopulmonary  infections,  pachyonychia,  and  palmo- plantar hyperkeratosis. Mutations in the C16orf57 gene, which is located on chromosome 16q13, have been identified as the cause of PN. PN was first described by Clericuzio in Navajo Indians. Herein, we reported the clinical presentations and laboratory investigations of PN in three siblings from Turkey.The older siblings presented with typical cutaneous poikiloderma, plantar keratoderma, pachyonychia of toenails, and recurrent upper respiratory infections. As the most affected patient, in addition to classic manifestations, the youngest sibling had recurrent pneumonia, hepatosplenomegaly, dental caries, failure to thrive, and hand malformation.Genetic study revealed a homozygous mutation (c.531delA) in the C16orf57 gene in siblings.With the presented study, we aimed to draw attention to PN which can be a predisposing factor to malignancies.

References

1. Chantorn R, Shwayder T. Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis. Pediatr Dermatol 2012; 29(4):463-72.

2. Hilcenko C, Simpson PJ, Finch AJ, Bowler FR, Churcher MJ, Jin L, et al. Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. Blood 2013; 121(6):1028-38.

3. Mason PJ, Bessler M. Poikiloderma with neutropenia:beginning at the end. Blood 2013; 121(6):872-4.

4. Mostefai R, Morice-Picard F, Boralevi F, Sautarel M, Lacombe D, Stasia MJ, et al. Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet A 2008; 146A(21):2762–9.

5. Arnold AW, Itin PH, Pigors M, Kohlhase J, Bruckner- Tuderman L, Has C. Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. Br J Dermatol 2010; 163(4):866–9.

6. Colombo EA, Bazan JF, Negri G, Gervasini C, Elcioglu NH, Yucelten D, et al. Novel C16orf57 mutations in patients with poikiloderma with neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. Orphanet J Rare Dis 2012; 7:7.

7. Farruggia P, Indaco S, Dufour C, Lanza T, Mosa C,Macaluso A, et al. Poikiloderma with neutropenia: A case report and review of the literature. J Pediatr Hematol Oncol 2014; 36(4):297-300.

8. Concolino D, Roversi G, Muzzi GL, Sestito S, Colombo EA, Volpi L, et al. Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. Am J Med Genet A 2010; 152A(10):2588-94.

9. Van Hove JL, Jaeken J, Proesmans M, Boeck KD, Minner K, Matthijs G, et al. Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. Am J Med Genet A 2005; 132A(2):152-8.

10. Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I.Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet 2010; 19(22):4453-61.

11. Porter WM, Hardman CM, Abdalla SH, Powles AV.Haematological disease in siblings with Rothmund- Thomson syndrome. Clin Exp Dermatol 1999; 24(6):452-4.

12. Rodgers W, Ancliff P, Ponting CP, Sanchez-Pulido L, Burns S, Hayman M, et al. Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia. Br J Dermatol 2013; 168(3):665-7.

13. Pianigiani E, De Aloe G, Andreassi A, Rubegni P, Fimiani M. Rothmund-Thomson syndrome (Thomson- type) and myelodysplasia. Pediatr Dermatol 2001;18(5):422-5.

14. Farruggia P, Indaco S, Dufour C, Lanza T, Mosa C, Macaluso A, et al. Poikiloderma with neutropenia: A case report and review of the literature. J Pediatr Hematol Oncol 2014; 36(4):297-300.

Published
2015-10-18
How to Cite
1.
Patiroglu T, Akar H. Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene. Iran J Allergy Asthma Immunol. 14(3):331-337.
Section
Case Report(s)