Cutaneous features in 17q21.31 deletion syndrome

Abstract

Microdeletion of 17q21.31 causes a recurrent recognisable dysmorphic syndrome. Four further patients with 17q21.31 microdeletions are reported here where previously the diagnosis of cardiofacio-cutaneous (CFC) syndrome was suggested. These patients have significant similarities of facial gestalt to previously reported 17q21.31 microdeletion patients, but a striking feature that has not been emphasised previously is the large number of naevi and other pigmentary skin abnormalities that may be present. These features, together with a coarse facial appearance, relative macrocephaly and significant learning disabilities, had led to the previous diagnostic suggestion of CFC syndrome in each of these four cases.

The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review

“…Hypo‐ and hyperpigmented anomalies, vitiligo, nevus, café‐au‐lait spots, curly hair, dry skin, eczema, ichthyosis, keratosis pilaris, hypodontia, missing teeth, and enamel defects are remarkable findings in KdVS (Digilio et al, 2014; Dubourg et al, 2011; Koolen et al, 2008; Shaw‐Smith et al, 2006; Tan et al, 2009; Terrone et al, 2012; Wright et al, 2011). Interestingly, some reports hypothesized the KANSL1 gene might have an effect on the RAS‐MAPK pathway activity that may cause ectodermal findings and melanoma due to the proliferation and dysregulation of melanocytes.…”

“…Consistent with the literature, we detected ASD (28.5%) in two of our patients and one of them was operated. The most frequently reported ocular anomalies are ptosis, strabismus, and refractive errors (Koolen et al, 2008(Koolen et al, , 2016Shaw-Smith et al, 2006;Wright et al, 2011;Zollino et al, 2015). Patients had a history of surgery mostly due to strabismus (Prat et al, 2021).…”

“…Interestingly, some reports hypothesized the KANSL1 gene might have an effect on the RAS‐MAPK pathway activity that may cause ectodermal findings and melanoma due to the proliferation and dysregulation of melanocytes. Melanoma was reported in KdVS (Han et al, 2019; Moreno‐Igoa et al, 2015; Wright et al, 2011). All patients in our cohort, had heterogeneous ectodermal findings.…”