Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis
Background Autosomal‐recessive congenital ichthyosis (ARCI) is a heterogeneous group of ichthyoses presenting at birth. Self‐improving congenital ichthyosis (SICI) is a subtype of ARCI and is diagnosed when skin condition improves remarkably (within years) after birth. So far, there are sparse data...
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Published in | Journal of the European Academy of Dermatology and Venereology Vol. 36; no. 4; pp. 582 - 591 |
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Main Authors | , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
England
01.04.2022
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Subjects | |
Online Access | Get full text |
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Summary: | Background
Autosomal‐recessive congenital ichthyosis (ARCI) is a heterogeneous group of ichthyoses presenting at birth. Self‐improving congenital ichthyosis (SICI) is a subtype of ARCI and is diagnosed when skin condition improves remarkably (within years) after birth. So far, there are sparse data on SICI and quality of life (QoL) in this ARCI subtype. This study aims to further delineate the clinical spectrum of SICI as a rather unique subtype of ARCI.
Objectives
This prospective study included 78 patients (median age: 15 years) with ARCI who were subdivided in SICI (n = 18) and non‐SICI patients (nSICI, n = 60) by their ARCI phenotype.
Methods
Quality of life (QoL) was assessed using the (Children’s) Dermatology Life Quality Index. Statistical analysis was performed with chi‐squared and t‐Tests.
Results
The genetically confirmed SICI patients presented causative mutations in the following genes: ALOXE3 (8/16; 50.0%), ALOX12B (6/16; 37.5%), PNPLA1 (1/16; 6.3%) and CYP4F22 (1/16; 6.3%). Hypo‐/anhidrosis and insufficient vitamin D levels (<30 ng/mL) were often seen in SICI patients. Brachydactyly (a shortening of the 4th and 5th fingers) was statistically more frequent in SICI (P = 0.023) than in nSICI patients. A kink of the ear’s helix was seen in half of the SICI patients and tends to occur more frequently in patients with ALOX12B mutations (P = 0.005). QoL was less impaired in patients under the age of 16, regardless of ARCI type.
Conclusions
SICI is an underestimated, milder clinical variant of ARCI including distinct features such as brachydactyly and kinking of the ears. Clinical experts should be aware of these features when seeing neonates with a collodion membrane. SICI patients should be regularly checked for clinical parameters such as hypo‐/anhidrosis or vitamin D levels and monitored for changes in quality of life. |
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Bibliography: | Correction added on 3 March 2022, after first online publication: An affiliation to University Hospital Münster has been added for L Hake. Funding sources L. Hake and K. Süßmuth have equal‐contributed to this work. The authors declare no conflict of interest. Conflict of interest This project was supported by a grant from the German research foundation DFG (FI1767/3‐1) and the Federal Ministry for Education and Research. The study cohort is part of a project funded by the programme ‘Innovative Medizinische Forschung’ (IMF); project number: SÜ212007. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0926-9959 1468-3083 |
DOI: | 10.1111/jdv.17873 |