Citation

Moss C, Srinivas SM, Sarveswaran N, Nahorski M, Gowda VK, Browne FM, Woods G. Br. J. Dermatol. 2018; 179(5): 1135-1140.

Affiliation

Department of Medical Genetics, University of Cambridge, Cambridge, UK.

Copyright

(Copyright © 2018, John Wiley and Sons)

DOI

10.1111/bjd.16893

PMID

29949203

Abstract

BACKGROUND: Mid-face Toddler Excoriation Syndrome (MiTES) is a condition recently reported in 3 unrelated children.¹ Habitual scratching from the first year of life inflicted deep, chronic, scarring wounds around the nose and eyes. One had mild neurological deficit but there was no other evidence of insensitivity to pain. Bilateral distribution and localisation to the mid-face distinguish MiTES from other causes of self-inflicted skin damage such as trigeminal trophic syndrome. An earlier study of five siblings from a consanguineous Irish family, with lesions corresponding to MiTES plus other sensory deficits, showed homozygous mutations in a gene for hereditary sensory and autonomic neuropathy (HSAN8), PRDM12².

METHODS: We describe 5 further children, from 4 families, with facial lesions typical of MiTES, in whom mutation analysis of PRDM12 was carried out.

RESULTS: Homozygous or compound heterozygous pathogenic expansions of the PRDM12 poly-alanine tract were found in 4 of 5 affected individuals, in 3 families.

CONCLUSIONS: Our finding of autosomal recessive mutations in PRDM12 in 4 out of 5 patients with MiTES extends the phenotypic spectrum of PRDM12 mutations, which usually cause HSAN8, characterised by mutilating self-inflicted wounds of extremities, lips and tongue. By contrast, MiTES shows severe mid-facial lesions with little if any evidence of generalised pain insensitivity. The condition is probably genetically heterogeneous and other congenital insensitivity to pain (CIP) and HSAN genes such as SCN11A may be implicated. This new understanding of the nature of MiTES, which can masquerade as factitious disease, will facilitate appropriate management. This article is protected by copyright. All rights reserved.

This article is protected by copyright. All rights reserved.

Language: en

Keywords

congenital insensitivity to pain; excoriations; facial; genetic; toddler