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1.
Ann Dermatol Venereol ; 151(1): 103247, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38513308

ABSTRACT

Congenital ichthyoses (CI) comprise a heterogeneous group of monogenic genetic skin diseases characterized by diffuse scaling, often associated with skin inflammation. Diagnosis of the individual form of ichthyosis is complex and is guided by clinical expertise. CI usually has a major impact on quality of life (QOL) and thus requires lifelong treatment. To date, there are no curative therapies, although various symptomatic treatment options exist. The present protocol for the management of CI has been drawn up in accordance with the recommendations published in 2012 by the French National Authority for Health, based on a literature review, with the help and validation of members of the French network for rare skin diseases (FIMARAD). It provides a summary of evidence and expert-based recommendations and is intended to help clinicians with the management of these rare and often complex diseases.


Subject(s)
Ichthyosis, Lamellar , Ichthyosis , Humans , Quality of Life , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/genetics , Ichthyosis, Lamellar/therapy , Ichthyosis/diagnosis , Ichthyosis/genetics , Ichthyosis/therapy , Skin , Diagnosis, Differential , Review Literature as Topic
2.
Pediatr Dermatol ; 41(3): 546-548, 2024.
Article in English | MEDLINE | ID: mdl-38196085

ABSTRACT

Autosomal recessive congenital ichthyoses (ARCI) are a range of genetic disorders of keratinization. The rare CYP4F22 gene mutation can present with or without collodion membrane at birth and leads to the development of mild ichthyosis phenotype. We report a case of a novel pathogenic CYP4F22 genetic mutation presenting with collodion membrane and ocular manifestations. Ocular manifestations have recently been reported in a patient with ARCI with known CYP4F22 mutation, which further supports a possible correlation between the CYP4F22 mutation and this distinct phenotype.


Subject(s)
Mutation , Humans , Male , Female , Phenotype , Ichthyosis, Lamellar/genetics , Ichthyosis, Lamellar/diagnosis , Cytochrome P-450 Enzyme System/genetics
3.
Pediatr Dermatol ; 41(2): 247-252, 2024.
Article in English | MEDLINE | ID: mdl-38234066

ABSTRACT

BACKGROUND: Ichthyoses are a heterogeneous group of skin disorders characterized by scaling and erythema. Recognizing the variability of scale and erythema by region and ichthyosis subtype, we developed the Ichthyosis Scoring System (ISS) to quantify severity. We previously found ISS to have high inter- and intrarater reliability in evaluating photographic images. To confirm ISS clinical utility, we examined its performance at the 2022 Foundation for Ichthyosis and Related Skin Types conference. METHODS: Sixty-five participants were evaluated by 3 of 9 medical professionals trained to score ichthyosis scale and erythema using ISS. Intrarater and interrater intraclass correlation coefficients (ICC) were analyzed using one-way and two-way random effects models, respectively. RESULTS: Intrarater reliability was excellent (ICC = 0.931, 95% CI, 0.921-0.940) for scale and good (ICC = 0.876, 95% CI, 0.853-0.899) for erythema scoring. Compared to photo validation with excellent intrarater reliability ratings for both scale (ICC = 0.956, 95% CI, 0.925-0.974) and erythema (ICC = 0.913, 95% CI, 0.855-0.949), ISS demonstrated equivalent reliability for live use. Overall interrater reliability for 10 body sites showed excellent (ICC >0.9) and good (ICC >0.75) agreement and consistency for both scale and erythema. Palms were an exception, demonstrating moderate (ICC >0.5) interrater agreement and consistency for erythema evaluation. CONCLUSIONS: ISS is a reliable measure of global and regional ichthyosis severity during in-person evaluations. Ease-of-use, accessibility, and content validity in both live and photographic evaluation endorse ISS as a standard for ichthyosis severity analysis.


Subject(s)
Ichthyosis, Lamellar , Ichthyosis , Humans , Reproducibility of Results , Severity of Illness Index , Observer Variation , Ichthyosis/diagnosis , Ichthyosis, Lamellar/diagnosis , Erythema
5.
Arch Dermatol Res ; 316(1): 24, 2023 Dec 07.
Article in English | MEDLINE | ID: mdl-38060040

ABSTRACT

BACKGROUND: Hereditary ichthyosis is a clinically and genetically heterogeneous disorder associated with more than 50 genes with TGM1, ALOX12B, and ALOXE3 being the most prevalent. Establishing an accurate diagnosis is important for effective genetic counseling and optimal patient management. OBJECTIVE: We studied the diagnostic value of whole exome sequencing (WES) in a small case series with hereditary ichthyosis. METHODS: During a 1-year period, index cases of 5 unrelated families clinically diagnosed with hereditary ichthyosis went through WES, followed by extensive segregation analysis. Prenatal diagnosis (PND) was conducted where indicated. RESULTS: We identified 4 homozygous variants-2 in TGM1 (c.655A > G and c.797A > G) and 2 in ALOX12B (c.527 + 2 T > G and c.1654G > T)-alongside a heterozygous variant in TGM1 (c.428G > A) in 5 families. The variants were all pathogenic/likely pathogenic according to the ACMG classification and segregation analysis, except for c.797A > G in TGM1 which remained a variant of unknown clinical significance. Four variants were novel. All families were referred either during pregnancy or before reproductive planning; 4 benefited from WES as it identified the mutation in the probands and enabled carrier detection in at-risk relatives; PND was conducted in 2 families. CONCLUSION: Our findings further support WES is a powerful tool for the comprehensive, accurate, and rapid molecular diagnosis of hereditary ichthyosis and can offer opportunities for reproductive planning, carrier screening and prenatal diagnosis to at-risk families.


Subject(s)
Ichthyosis, Lamellar , Ichthyosis , Humans , Arachidonate 12-Lipoxygenase/genetics , Exome Sequencing , Genetic Counseling , Ichthyosis/diagnosis , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/genetics , Mutation
6.
J Int Med Res ; 51(10): 3000605231204491, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37848341

ABSTRACT

Self-improving collodion ichthyosis (SICI) is a relatively rare subtype of autosomal recessive congenital ichthyosis (ARCI) that is often characterized by a collodion baby (CB) phenotype at birth. A newborn girl, just 1 hour old, presented with taut, shiny, thick yellow crusts, like parchment, and scales on her trunk and upper limbs. The tightening effect had caused both upper eyelids to appear everted, and her lips and auricles were deformed. Based on whole-exome sequencing and examination of the clinical phenotype, the patient was diagnosed with ARCI. After admission, the exposed mucosa was covered with a sterile Vaseline gauze dressing, and she was placed in an incubator set to a temperature of 32°C with a humidity level of 75%. One week later, the parchment-like scales had begun to flake off, and at the age of 3 weeks, all bodily skin appeared normal. SICI was diagnosed. After discharge, the patient was followed up to 3 months of age, at which time her growth and development were comparable to those of her peers. Clinicians should consider SICI as a possible diagnosis when analyzing the prognosis of patients with CB. Reducing water loss and maintaining the electrolyte balance are particularly important for SICI treatment.


Subject(s)
Ichthyosis, Lamellar , Ichthyosis , Humans , Infant , Infant, Newborn , Female , Collodion , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/genetics , Ichthyosis, Lamellar/therapy , Ichthyosis/diagnosis , Ichthyosis/genetics , Skin , Phenotype
9.
Rev Paul Pediatr ; 41: e2022057, 2023.
Article in English | MEDLINE | ID: mdl-37042943

ABSTRACT

OBJECTIVE: The classic triad, which defines IFAP syndrome, is ichthyosis follicularis, alopecia, and photophobia. It is a rare X-linked genetic disorder characterized by multiple congenital anomalies with variable severity, caused by pathogenic variants in the MBTPS2 gene, which encodes a zinc metalloprotease that is essential for normal development. This study aimed to report a case of a Brazilian patient with IFAP syndrome presenting skeletal anomalies, which is a rare finding among patients from different families. CASE DESCRIPTION: We describe a male proband with IFAP syndrome showing severe ichthyosis congenita, cryptorchidism, limb malformation, and comprising the BRESHECK syndrome features. Using whole-exome sequencing, we identified a rare missense variant in hemizygosity in the MBTPS2 gene, which had not been identified in other family members. COMMENTS: This is the first diagnosis of IFAP syndrome in Brazil with a molecular investigation. The present case study thus expands our knowledge on the mutational spectrum of MBPTS2 associated with IFAP syndrome.


Subject(s)
Ichthyosis, Lamellar , Ichthyosis , Humans , Male , Ichthyosis, Lamellar/complications , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/genetics , Brazil , Metalloendopeptidases/genetics , Ichthyosis/complications , Ichthyosis/diagnosis , Ichthyosis/genetics , Alopecia/diagnosis , Alopecia/genetics , Alopecia/pathology , Syndrome
10.
Dermatol Online J ; 29(1)2023 Feb 15.
Article in English | MEDLINE | ID: mdl-37040911

ABSTRACT

Collodion baby is usually a manifestation of autosomal recessive congenital ichthyosis, a heterogeneous group of congenital hyperkeratotic genodermatoses with highly variable severity and genetic background. Herein, we report a case of self-improving collodion ichthyosis, a rare subtype of autosomal recessive congenital ichthyosis, characterized by an almost-complete spontaneous resolution of symptoms.


Subject(s)
Ichthyosis, Lamellar , Ichthyosis , Infant , Humans , Collodion , Ichthyosis, Lamellar/diagnosis , Ichthyosis/genetics , Arachidonate 12-Lipoxygenase/genetics
11.
BMJ Case Rep ; 16(2)2023 Feb 28.
Article in English | MEDLINE | ID: mdl-36854483

ABSTRACT

Congenital ichthyoses are a rare group of genetic disorders caused by defects in the two outermost skin layers, resulting in an abnormal barrier function. We report the case of a male preterm neonate presenting at delivery with thickened and scaling skin, ectropium and eclabium. Supportive care aiming at improving skin condition and handling possible complications was provided. Following gradual clinical improvement, he was discharged after 27 days. Molecular testing identified mutations in a gene encoding lipoxygenase (ALOX12B), associated with autosomal recessive congenital ichthyosis. This case highlights an uncommon disease that can determine significant morbidity and mortality in the first few weeks of life. Management of this complex disease benefits from a multidisciplinary approach. Molecular studies allow a more accurate diagnosis and enable genetic counselling.


Subject(s)
Ichthyosiform Erythroderma, Congenital , Ichthyosis, Lamellar , Infant, Newborn , Male , Humans , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/genetics , Ichthyosis, Lamellar/therapy , Genetic Counseling , Mutation , Patient Discharge
12.
BMJ Case Rep ; 16(2)2023 Feb 17.
Article in English | MEDLINE | ID: mdl-36805864

ABSTRACT

A teenage boy who was previously diagnosed to have congenital ichthyosis presented to the eye clinic with complaints of gradually decreasing vision in both eyes since childhood. The best-corrected distance visual acuity was 20/125 in the right eye and 20/40 in the left eye. Clinical examination revealed developmental cataracts in both eyes. He underwent cataract surgery in the right eye and visual acuity improved to 20/25. Hence, we conclude that congenital ichthyosis can be associated with developmental cataracts. Cataract surgery helps in restoring vision in those with visually significant cataracts.


Subject(s)
Cataract Extraction , Cataract , Ichthyosiform Erythroderma, Congenital , Ichthyosis, Lamellar , Male , Adolescent , Humans , Child , Ichthyosis, Lamellar/complications , Ichthyosis, Lamellar/diagnosis , Eye , Cataract/complications
13.
Pediatr Dermatol ; 40(4): 688-690, 2023.
Article in English | MEDLINE | ID: mdl-36623811

ABSTRACT

A female twin presented at birth with a collodion membrane on the hands and feet. After the membrane resolved over the first months of life, she was initially diagnosed with acral self-healing collodion membrane. However, she subsequently developed brown well-defined geometric scales on the trunk and extremities, consistent with ichthyosis. Genetic testing showed a heterozygous pathogenic variant in ELOVL4, a gene associated with syndromic ichthyosis with developmental delay, seizures, and spasticity. Although acral collodion membrane is considered to be a benign variant of the more generalized collodion, usually described as "self-healing," it may be the initial presentation of more diffuse ichthyosis.


Subject(s)
Ichthyosis, Lamellar , Ichthyosis , Infant, Newborn , Humans , Female , Collodion , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/genetics , Ichthyosis/genetics , Heterozygote , Hand/pathology , Eye Proteins/genetics , Membrane Proteins/genetics
14.
Pediatr Dermatol ; 40(5): 879-881, 2023.
Article in English | MEDLINE | ID: mdl-36709747

ABSTRACT

Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessive disorder of impaired triacylglycerol catabolism leading to cytoplasmic deposition of triglycerides in various cell types. We describe the case of an 8-month-old boy with cataracts, strabismus, motor delays, and an ichthyosiform rash since birth. Genetic testing revealed a pathogenic variant of the ABHD5 gene, suggestive of CDS, and further workup demonstrated hepatic steatosis and myopathy. His ichthyosis improved with initiation of a diet low in very long-chain fatty acids and medium-chain fatty acid supplementation.


Subject(s)
Cataract , Ichthyosiform Erythroderma, Congenital , Ichthyosis, Lamellar , Ichthyosis , Lipid Metabolism, Inborn Errors , Muscular Diseases , Male , Humans , Infant , Ichthyosiform Erythroderma, Congenital/diagnosis , Ichthyosiform Erythroderma, Congenital/genetics , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/genetics , Ichthyosis/diagnosis , Ichthyosis/genetics , Muscular Diseases/diagnosis , Muscular Diseases/genetics , Muscular Diseases/pathology , Lipid Metabolism, Inborn Errors/diagnosis , Lipid Metabolism, Inborn Errors/genetics , Lipid Metabolism, Inborn Errors/pathology , Cataract/diagnosis , 1-Acylglycerol-3-Phosphate O-Acyltransferase/genetics
15.
JAMA Dermatol ; 159(2): 210, 2023 02 01.
Article in English | MEDLINE | ID: mdl-36576743

ABSTRACT

This case report describes a patient in her 30s who was born with ichthyosis who presented with plate-like scale that covered her whole body as well as ectropion.


Subject(s)
Ectropion , Ichthyosis, Lamellar , Humans , Ichthyosis, Lamellar/diagnosis
16.
Pediatr Dermatol ; 40(1): 107-112, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36262015

ABSTRACT

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a heterogenous group of rare keratinization disorders. To date, more than 13 causative genes have been identified. However, data on clinical and molecular characteristics including genotype-phenotype correlation are lacking in Thailand. OBJECTIVE: We collected cases diagnosed with non-syndromic ARCI and syndromic recessive congenital ichthyosis at the Institute of Dermatology from 2011 to 2021 and performed genetic testing with next-generation sequencing and assessed clinical details. METHODS: Baseline demographic data, birth history, family history, skin manifestations at birth, current cutaneous manifestations, comorbidities, and response to treatments were assessed. DNA was screened for mutations using targeted gene sequencing of 45 genes related to congenital ichthyosis. RESULTS: A total of 33 patients were analyzed with an average age of 23.8 ± 13.9 years. Congenital ichthyosiform erythroderma (CIE) was most common (60.6%), followed by lamellar ichthyosis (18.2%), self-improving congenital ichthyosis (6.1%), Netherton syndrome (6.1%), ichthyosis prematurity syndrome (3%), Sjögren-Larsson syndrome (3%) and bathing suit ichthyosis (3%). Eight genes were found with pathogenic variants in our cohort as follows: ABCA12 42.4% (14/33), NIPAL4 24.2% (8/33), TGM1 15.2% (5/33), SPINK5 6.1% (2/33), ALDH3A2 3% (1/33), SLC27A4 3% (1/33), CYP4F22 3% (1/33), and ST14 3% (1/33). Clinically, 79% of patients with ABCA12 pathogenic variants in this study had CIE, 79% of w had novel biallelic pathogenic compound heterozygous variants, whereas 21% had homozygous missense variants. CONCLUSIONS: This is the first study to describe clinical and molecular findings of ARCI in a cohort from Thailand. Our findings demonstrate the clinical spectrum of the diseases and expand the molecular findings in a Southeast Asian population.


Subject(s)
Ichthyosiform Erythroderma, Congenital , Ichthyosis, Lamellar , Ichthyosis , Humans , Genes, Recessive , Ichthyosiform Erythroderma, Congenital/diagnosis , Ichthyosiform Erythroderma, Congenital/epidemiology , Ichthyosiform Erythroderma, Congenital/genetics , Ichthyosis/genetics , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/epidemiology , Ichthyosis, Lamellar/genetics , Mutation , Thailand/epidemiology , Child , Adolescent , Young Adult , Adult
18.
J Lipid Res ; 63(12): 100308, 2022 12.
Article in English | MEDLINE | ID: mdl-36332686

ABSTRACT

Self-healing collodion baby (SHCB), also called "self-improving collodion baby", is a rare mild variant of autosomal recessive congenital ichthyosis and is defined as a collodion baby who shows the nearly complete resolution of scaling within the first 3 months to 1 year of life. However, during the neonatal period, it is not easy to distinguish SHCB from other inflammatory forms of autosomal recessive congenital ichthyosis, such as congenital ichthyosiform erythroderma. Here, we report a case study of two Japanese SHCB patients with compound heterozygous mutations, c.235G>T (p.(Glu79∗))/ c.1189C>T (p.(Arg397Cys)) and c.1295A>G (p.(Tyr432Cys))/ c.1138delG (p.(Asp380Thrfs∗3)), in CYP4F22, which encodes cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22). Immunohistochemically, inflammation with the strong expression of IL-17C, IL-36γ, and TNF-α was seen in the skin at birth. CYP4F22 is an ultra-long-chain FA ω-hydroxylase responsible for ω-O-acylceramide (acylceramide) production. Among the epidermal ceramides, acylceramide is a key lipid in maintaining the epidermal permeability barrier function. We found that the levels of ceramides with ω-hydroxy FAs including acylceramides and the levels of protein-bound ceramides were much lower in stratum corneum samples obtained by tape stripping from SHCB patients than in those from their unaffected parents and individuals without SHCB. Additionally, our cell-based enzyme assay revealed that two mutants, p.(Glu79∗) and p.(Arg397Cys), had no enzyme activity. Our findings suggest that genetic testing coupled with noninvasive ceramide analyses using tape-stripped stratum corneum samples might be useful for the early and precise diagnosis of congenital ichthyoses, including SHCB.


Subject(s)
Ceramides , Ichthyosis, Lamellar , Infant , Infant, Newborn , Humans , Collodion , Ceramides/metabolism , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/genetics , Genetic Testing
19.
Skinmed ; 20(4): 305-306, 2022.
Article in English | MEDLINE | ID: mdl-35976023

ABSTRACT

A 4-year-old boy born from a consanguineous marriage was referred to our department for congenital ichthyosis. He was a collodion baby at birth and progressively developed a generalized erythroderma with fine whitish scales covering his body. Initially, he was diagnosed as having congenital ichthyosiform erythroderma. Physical examination revealed fine white grayish scales with an erythematous background involving the scalp and flexural areas (Figure 1a). His palms and soles depicted hyperlinearity (Figure 1b). His hair, teeth, nails, and mucosa were normal. Abdominal examination revealed hepatomegaly, and the liver was enlarged by 4 cm below the right costal margin. He had a normal motor and mental development, and his neurologic examination was normal. There was no muscular weakness. (SKINmed. 2022;20:305-306).


Subject(s)
Ichthyosiform Erythroderma, Congenital , Ichthyosis, Lamellar , Child, Preschool , Hair , Humans , Ichthyosiform Erythroderma, Congenital/diagnosis , Ichthyosis, Lamellar/diagnosis , Infant, Newborn , Male
20.
Ital J Pediatr ; 48(1): 145, 2022 Aug 13.
Article in English | MEDLINE | ID: mdl-35964051

ABSTRACT

BACKGROUND: Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutations in genes mostly involved in skin barrier formation. Based on clinical presentation, CI is distinguished in non-syndromic and syndromic forms. To date, mutations of more than 50 genes have been associated to different types of CI. CASES PRESENTATION: We report on three Italian unrelated newborns showing clinical signs compatible with different forms of CI of variable severity, namely Harlequin ichtyosis (HI), epidermolytic ichtyosis (EI) and autosomal recessive ichtyosis with hypotrichosis (ARIH). Target next generation sequencing (NGS) analysis identified three novel mutations of the ABCA12, KRT1 and ST14 genes, respectively associated to such congenital ichtyoses, not reported in literature. Genomic investigation allowed to provide the more appropriate management to each patient, based on an individualized approach. CONCLUSIONS: Our report highlights the wide genetic heterogeneity and phenotypic variability of CI. It expands the current knowledge on such diseases, widening their genomic database, and providing a better clinical characterization. Furthermore, it underlines the clinical relevance of NGS, which is essential to address the management of patients. Indeed, it may guide towards the most adequate approach, preventing clinical obstinacy for subjects with more severe forms and unfavorable outcomes (together with the support, in such situations, of bioethicists included within the multidisciplinary care team), as well as reassuring families in those with milder course and favorable evolution.


Subject(s)
Ichthyosis, Lamellar , Serine Endopeptidases/genetics , ATP-Binding Cassette Transporters , Alopecia/congenital , High-Throughput Nucleotide Sequencing , Humans , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/genetics , Infant, Newborn , Keratin-1/genetics , Mutation
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