RT info:eu-repo/semantics/article
T1 Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series
A1 Rodrigo-Nicolás, B.
A1 Martín-Santiago, A.
A1 Cañueto, J.
A1 Vicente, A.
A1 Torrelo, A.
A1 Noguera-Morel, L.
A1 Duat-Rodríguez, A.
A1 Jorge-Finnigan, C.
A1 Palacios-Álvarez, I.
A1 García-Hernández, J.L.
A1 Sebaratnam, Deshan
A1 González Sarmiento, Rogelio
A1 Hernández Martín, Ángela
A1 Bueno Martínez, Elena
AB Background X-linked recessive ichthyosis (XLI) is a relatively common type of ichthyosis caused by a deficiency in the steroid sulfatase (STS) enzyme. It is the only type of ichthyosis that can be both syndromic and nonsyndromic. Typical clinical features include dark-brown scale of variable size favouring the extensor surfaces of the extremities.Objectives To characterize clinically nonsyndromic XLI, with a particular focus on extracutaneous manifestations.Methods This was a multicentre retrospective review of clinical findings from a case series of patients with a clinical and genetic diagnosis of XLI.Results We identified 30 patients with XLI belonging to 25 different families carrying a deletion in the STS locus. All patients had dark scales of variable size on the extensor surfaces of the extremities. Lack of flexural involvement and pruritus were common but inconsistent findings, whereas palmoplantar hyperlinearity was absent in all but one patient. A history of orchiopexy was present in 10% and thus was more common than expected vs. the general population (3%). Neurological disorders including epilepsy (13%) and attention deficit hyperactivity disorder (ADHD; 30%) were over-represented in patients with XLI. Conclusions This was a retrospective study with a limited number of patients. In the absence of confirmatory genetic testing and family history of the disease, dark-brown scale of the extensor surfaces and the absence of palmoplantar hyperlinearity appear to be the most reliable clinical findings supporting a diagnosis of XLI. Dermatologists should be aware of the high prevalence of ADHD and epilepsy in patients with nonsyndromic XLI.
SN 0007-0963
YR 2018
FD 2018
LK https://uvadoc.uva.es/handle/10324/65847
UL https://uvadoc.uva.es/handle/10324/65847
LA eng
NO British Journal of Dermatology. 2018 Oct;179(4):933-939
DS UVaDOC
RD 29-nov-2024