Poikiloderma with neutropenia D70.5

Clericuzio C et al. (1991)

Clericuzio-type poikiloderma with neutropenia (PN) is characterized by poikiloderma, usually noncyclic, permanent (Aglaguel A et al 2017) neutropenia, recurrent sinopulmonary infections, pachyonychia, and palmo-plantar hyperkeratosis. The syndrome was first described in Navajo Indians by Clericuzio in 1991.

Clericuzio syndrome, a genodermatosis is associated with mutations in the C16orf57 gene located on chromosome 16q13. Furthermore, a biallelic mutation in the USB1 gene / U Six Biogenesis 1 has been described for this syndrome (Aglaguel A et al. 2017).

Onset of disease in the first months of life. The average age at diagnosis in a patient series was 7.5 years.

Clinically, the syndrome is characterized by poikiloderma, palmoplantar hyperkeratosis, pachyonychia of the toenails, and recurrent upper respiratory tract infections (Sakka R et al. 2018). The poikilodermic skin lesions started on the face in one patient and gradually spread to the extremities and trunk. In addition, there were recurrent pneumonias, hepatosplenomegaly, dental caries, failure to thrive, and a hand malformation.

1. Aglaguel A et al (2017) Poikiloderma with neutropenia in Morocco: a Report of Four Cases. J Clin Immunol 37:357-362.
2. Clericuzio C et al (1991) Immune deficient poikiloderma: a new genodermatosis. (Abstract) Am. J Hum Genet 49 (suppl): 131.
3. Patiroglu T et al. (2015) 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 14:331-337.
4. Sakka R et al (2018) Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation. Pediatr Blood Cancer 65:e27262