Universität zu Köln

Hake, L., Suessmuth, K., Komlosi, K., Kopp, J., Drerup, C., Metze, D., Traupe, H., Hausser, I, Eckl, K. M., Hennies, H. C., Fischer, J. and Oji, V (2022). Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis. J. Eur. Acad. Dermatol. Venereol., 36 (4). S. 582 - 592. HOBOKEN: WILEY. ISSN 1468-3083

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Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Hake, L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Suessmuth, K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Komlosi, K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kopp, J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Drerup, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Metze, D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Traupe, H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hausser, I UNSPECIFIED UNSPECIFIED UNSPECIFIED Eckl, K. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hennies, H. C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fischer, J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Oji, V UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-688582
DOI:	10.1111/jdv.17873
Journal or Publication Title:	J. Eur. Acad. Dermatol. Venereol.
Volume:	36
Number:	4
Page Range:	S. 582 - 592
Date:	2022
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1468-3083
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PHENOTYPIC SPECTRUM; MUTATIONS; ALOXE3; PNPLA1; PREDICTION; ALOX12B; SERVER Multiple languages Dermatology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/68858