Congenital Ichthyosiform Erythroderma Research Articles

Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.

Autosomal recessive congenital ichthyosis (ARCI) refers to non-syndromic ichthyosis caused by mutations in one of the 13 identified genes. There are limited data on the genotype of ARCI and its phenotypic correlation from India. The aim of this study was to characterize the genotype of ARCI among patients from the Indian subcontinent. Twenty-eight patients clinically diagnosed as ARCI were recruited prospectively from September 2017 to June 2019 (21months). DNA was extracted from peripheral blood and analyzed for the 13 described ARCI genes-TGM1, ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, SULT2B1, and CASP14 by next-generation sequencing using an in-house panel. The variants identified were confirmed by Sanger sequencing and compared with known pathogenic variants to establish pathogenicity. We also attempted to correlate the phenotype with the genotype. Among the 28 patients recruited (M=17, F=11), we identified phenotypes of congenital ichthyosiform erythroderma in 12 (42.9%), 8 with lamellar ichthyosis (28.6%), 5 with intermediate phenotype (17.9%), and 3 with bathing suit ichthyosis (10.7%). Pathogenic and likely pathogenic variants were identified in 22 (78.6%) patients, involving 7 out of the 13 known ARCI genes while 6 (21.4%) did not have pathogenic variants. These included TGM1 mutation in 6 (21.4%), ALOX12B and ALOXE3 in 4 (14.3%) each, NIPAL4 and PNPLA1 in 3 (10.7%) each, and ABCA12 and CERS3 in 1 (3.6%) patient each. Previously unknown pathogenic variants were found in 59.1 % of patients. Our patients with ARCI were found to have genotypes as previously described in other populations.

Transcriptomic Analysis of the Major Orphan Ichthyosis Subtypes Reveals Shared Immune and Barrier Signatures

Preliminary work suggested upregulation of inflammatory pathways in patients with common forms of ichthyosis. However, a comprehensive characterization of skin from various ichthyosis subtypes is unavailable, precluding the development of targeted treatments. Thus, we sought to characterize the immune and barrier profiles of common and subtype-specific skin transcriptomes in a large group of patients with ichthyosis. We performed a global RNA-sequencing analysis in 54 patients with ichthyosis (7 with Netherton syndrome, 13 with epidermolytic ichthyosis, 16 with lamellar ichthyosis, and 18 with congenital ichthyosiform erythroderma) and 40 healthy controls. Differentially expressed genes were defined on the basis of fold changes > 2 and false discovery rate < 0.05 criteria. We found robust and significant T helper (Th) 22/Th17 skewing in all subtypes (e.g., IL-17A/C/F, S100A7/8/9/12; P < 0.001) with modest changes in Th2 pathway, primarily in Netherton syndrome, and Th1 skewing in congenital ichthyosiform erythroderma. Across all subtypes (less evident in epidermolytic ichthyosis), lipid metabolism and barrier junction markers were downregulated (e.g., FA2H, CDH10/11/12/2; P < 0.05), whereas epidermal cornification and proliferation measures were upregulated (e.g., SPRR1A/1B/2C/2G, EREG; P < 0.05). Our findings suggest that the common ichthyosis variants share aberrations in Th17/Th22 and barrier function, with minimal Th2 modulation. This may help to elucidate the pathogeneses of these subtypes and inform the development of subtype-specific treatments.

Abstract 60: Rickets in congenital bullous ichthyosiform erythroderma

Introduction: Congenital ichthyosiform erythroderma (CIE), also known as bullous congenitalichthyosiform erythroderma is a rare type of the ichthyosis family of skin diseases which occurs in 1 in 200,000 to 300,000 births. CIE comes under the umbrella term autosomal recessive congenital ichthyosis (ARCI), which include non-syndromic congenital ichthyosis such as harlequinichthyosis and lamellar ichthyosis. Ichthyosiform erythroderma due to keratinizing disordersmaysuppress cutaneous vitamin D synthesis, leading to vitamin D deficiency and rickets.Description: A 8 year 10 months old female child presented with poor height gain from 5 years and inward bending of knees from 5 years. h/o hyperpigmented hyperkeratotic scaly dry skinfrombirth. She was diagnosed with Bullous ichythosiform erythroderma and was prescribed emollients by a dermatologist. She is born out of non-consangienous marriage, second in birth order has an elder and youngersibling who are apparently normal. Ichythyosis present from birth more during winter season. h/o delayed dentition present. No h/o constipation or weight gain. h/o delayed motor milestones present. Language and social skills normal. o/e height is 78 cms @ < -10.8 SDS; height age <2 years weight 10 kg @ < - 6 SDS ; weight age < 2 years inward bending of knees + ; forward bending of tibia + ; ichthyosis over lower limbs, abdomen and upper limb. Her labs showed low Vit D levels of 8.7 ng/ml; calcium of 7.5 mg/dl (8- 10 mg/dl); phosphorus 2.6 mg/ml (2.5-4.8 mg/dl); elevated serum Alkaline phosphatase of 1450 IU/L; serum PTH of 181 pg/ml; normal thyroid and renal profile. She was started on oral vitamin D3 supplements and calcium supplements.Discussion: Ichthyosiform erythroderma is of two types, one inherited as an autosomal dominant and the other as an autosomal recessive trait. The recessive form is nonbullous and is associated with growth retardation, oligophrenia, spastic paralysis, genital hypoplasia, hypotrichia and shortened life expectancy. In the autosomal dominant or bullous form, however, life expectancy is not shortened, and the associated symptoms include only seborrhoea of the head an probably polydipsia. Both types begin at birth and are localized mostly on the flexor surfaces. Nonbullous congenital ichthyosiform erythroderma is characterized by prominent erythroderma and fine white, superficial semiadherent scales. The majority of affected individuals are present at birth as collodion babies. Skin histology shows hyperkeratosis, an increase in stratum corneum thickness, a normal or prominent granular layer and increased mitoses. Development of skeletal features in this condition can be explained by the fact that the maintenance of healthy skeleton requires vitamin D, the main source of which is biosynthesis in the skin. Epidermal hyperproliferation disturbs this synthesis and results in rickets.

Association between diffuse idiopathic skeletal hyperostosis and long-term use of isotretinoin: case report

Diffuse Idiopathic Skeletal Hyperostosis (DISH) is a systemic condition that affects mainly the anterolateral spine, with abundant bone growth and formation of bridges between the vertebral bodies, but ossification in peripheral entheses may also occur. Its prevalence increases with age and is higher in males. Diagnosis at ages under 40 years are extremely rare. Hence, this report aims to describe a rare case of DISH in a young woman probably due to the long-term use of isotretinoin and discuss its presentation, bone involvement and differential diagnosis. A 37-year-old female patient was admitted to the Rheumatology service with progressive limitation of neck rotation and back flexion during the past 3 years, associated with great loss of function and impairment in daily activities. She had a previous diagnosis of congenital ichthyosiform erythroderma, managed with low doses of isotretinoin for 12 years. The current weekly isotretinoin dosage was 180mg. Prior image exams showed axial spondylopathy with diffuse peripheric enthesopathy since she was 33 years old and sacroiliitis with asymmetric syndesmophytes in the lumbar spine that resembled a psoriatic arthritis. Other diseases were denied. Family history included a case of rheumatoid arthritis but no history of psoriasis. Physical exam included erythema and diffuse skin peeling in the upper and lower limbs. Her hands were deformed with ulnar deviation but had no signs of arthritis. Cervical rotation was stiff and ranged 30o to the left and 35o to the right. Schober test distanced 1cm and Patrick’s Faber test was negative. Laboratory tests showed no alteration except for a serum 25-OH vitamin D of 7.25ng/mL (reference value: &gt;30ng/mL). Biochemical and bone turnover markers were normal, including serum total calcium, magnesium, phosphorus, parathyroid hormone and alkaline phosphatase. Inflammatory markers C-reactive protein and erythrocyte sedimentation rate were within normal ranges. Human leukocyte antigen B27 was negative. Conventional radiographies were performed and showed increased bone texture with calcification of anterior and lateral ligaments of the cervical, thoracic and lumbar spine. Bone mineral density, evaluated by dual-energy X-ray absorptiometry (DXA), showed a Z-score of +3.2 SD at lumbar spine. Trabecular bone score by DXA was normal and vertebral fracture assessment showed no fracture and confirmed the formation of bridges between vertebral bodies. Clinical presentation was not compatible with ankylosing spondylitis nor psoriatic arthritis as there was no typical inflammatory pain, no elevated inflammatory markers, no typical skin lesions and no family history of psoriasis. However, the hyperostosis affecting the spine and the diffuse enthesopathy were very exuberant for DISH, but the female sex, young age and bilateral spine involvement were uncommon finds. As this patient was on long-term isotretinoin therapy, DISH development is more likely an adverse effect of retinoids on bone metabolism. Thus, clinicians and dermatologists should be always alert to the adverse effects of prolonged use of isotretinoin and, in cases of movement restriction, possible bone involvement must be further evaluated, as DISH may be a differential diagnosis. Since there is no specific treatment, early diagnosis can be crucial to avoid extensive bone damage and irreversible morbidity.

A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient

Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency. It is characterised by substantial skin barrier defects and is often misdiagnosed as severe atopic dermatitis or hyper-immunoglobulin E syndrome. Although more than 80 NS-associated pathogenic mutations in the serine peptidase inhibitor kazal type 5 (SPINK5) gene have been reported worldwide, only one has been reported in the Arab population to date. We report the case of a novel association between the c.1887+1G>A mutation in the SPINK5 gene and NS in an Omani-Arab patient born in 2014 who was managed at a paediatric immunology clinic in Muscat, Oman. Accurate genetic diagnosis facilitated tailored clinical management of the index patient and enabled the provision of genetic counselling and offering of future reproductive options to the individuals related to the index patient.

Ichthyosis (concept, pathohistology, clinical picture, treatment)

Ichthyosis is a skin disease that is hereditary, has pronounced symptoms in the form of a violation of the skin, and the presence of formations resembling fish scales. It is possible to distinguish different approaches to the definition of ichthyosis, based on the modern study of this issue. Ichthyosis is classified by type: congenital and acquired. Congenital ichthyosis has its own classification depending on the manifestation of changes in the skin, the course of the disease, concomitant pathologies. Congenital ichthyosis is divided into ordinary (vulgar autosomal dominant, simple) ichthyosis, lamellar ichthyosis (dry ichthyosiform erythroderma, "collodion child", lamellar ichthyosis), X-linked ichthyosis (ichthyosis associated with the X chromosome, blackening ichthyosis), congenital bullous ichthyosiform erythroderma (erythroderma Broca's disease, ichthyosiform epidermolytic hyperkeratosis), fetal ichthyosis (intrauterine ichthyosis, universal hyperkeratosis, "Harlequin fetus", congenital keratosis), other congenital ichthyosis. Ichthyosiform conditions (the so-called acquired ichthyosis) are divided into symptomatic, age-related (senile), discoid ichthyosis. The causes of acquired ichthyosis can be various diseases, taking medications, improper skin care, unbalanced nutrition. Each form of ichthyosis differs by the type of inheritance, prevalence in the population, clinical picture, verified by histological examination of skin biopsies and electron microscopic examination of the skin. It may be accompanied by seasonality of exacerbation of the clinical picture, association with other diseases (allergic, diseases of the gastrointestinal tract, congenital malformations). There is no specific treatment for ichthyosis. In systemic therapy, derivatives of vitamin A are used, keratolytics, as well as moisturizing and emollient agents are used for external treatment. The use of therapeutic baths, general ultraviolet irradiation is effective.

Molecular Genetic Study of Congenital Ichthyosiform Erythroderma (CIE) Reveals a Novel Likely Pathogenic Variant in an Iranian Pedigree

Introduction: Congenital ichthyosiform erythroderma (CIE) is a subtype of autosomal recessive congenital ichthyosis (ARCI), a group of ineffective keratinization disorders, which mainly results from missense mutations in the transglutaminase 1 (TGM1) gene. Case Presentation: Herein, a 9-year-old male case of CIE is presented, for whom we conducted genetic testing to uncover the underlying molecular cause of his condition. We performed whole-exome sequencing (WES) on the DNA extracted from blood, and the data was analyzed for checking pathogenic variants. Analysis of the WES data identified a novel missense variant, c.1165C &gt;T (p. Arg389Cys), in the TGM1 gene. Evaluation of this variant via in silico tools showed its detrimental consequences on the stability and function of the encoded protein. The variant was characterized as likely pathogenic based on the American College of Medical Genetics and Genomics guidelines for variant interpretation. Analysis of all available family members confirmed the co-segregation of this novel variant with the CIE disease within the family. Conclusions: This study reported the successful application of WES and bioinformatics analysis to identify a novel mutation in a well-established ARCI-causing residue in an Iranian patient.

Netherton Syndrome in Children: Management and Future Perspectives.

Netherton syndrome (NS) is a genetic, multisystemic disease classically distinguished by a triad of clinical manifestations: congenital ichthyosiform erythroderma, hair shaft abnormalities, and immune dysregulation. Due to the complex pathogenesis of the disease, there are no specific therapies currently accessible for patients with NS. An early diagnosis is crucial to start the correct management of these patients. A multidisciplinary approach, including specialists in immunology, allergology, and dermatology, is necessary to set up the best therapeutic pathway. We conducted a review with the aim to summarize the different therapeutic strategies currently accessible and potentially available in the future for children with NS. However, given the limited data in the literature, the best-tailored management should be decided upon the basis of the specific clinical characteristics of the patients with this rare clinical condition. Further comprehension of the pathophysiology of the disease could lead to more efficacious specific therapeutic options, which could allow a change in the natural history of NS.

Il neonato con gli occhi socchiusi. La displasia ectodermica legata al gene TP63

An Italian female newborn presented with cleft palate, erythroderma, desquamations, skin erosions, ankyloblepharon filiforme adnatum, broad nasal root, short philtrum, thin vermillion border, maxillary hypoplasia, microstomia, microglossia, cupped ears, hypoplasia of the distal phalange of left index, widely spaced nipples and polythelia. The hallmarks of ankyloblepharon-ectodermal dysplasia-clefting syndrome (or Hay-Wells syndrome) as well as persistent scalp erosions led to exclude more frequent skin disorders like congenital ichthyosiform erythroderma or epidermolysis bullosa and to diagnose Hay-Wells syndrome by genetic analysis. Target sequencing of the tumour protein p63 (TP63) gene revealed a novel heterozygous missense mutation I576T in exon 13 (c. 1727T&gt;C) in the sterile alpha motive domain. The paper reports the clinical features, differential diagnoses and prognosis in TP63-related ectodermal dysplasia.

Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population

Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema. Clinical manifestations range from lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) through the most severe form of ARCI, Harlequin ichthyosis (HI). We used homozygosity mapping, whole-exome and direct sequencing to delineate the relative distribution of pathogenic variants as well as identify genotype-phenotype correlations in a cohort of 62 Middle Eastern families with ARCI of various ethnic backgrounds. Pathogenic variants were identified in most ARCI-associated genes including TGM1 (21%), CYP4F22 (18%), ALOX12B (14%), ABCA12 (10%), ALOXE3 (6%), NIPAL4 (5%), PNPLA1 (3%), LIPN (2%) and SDR9C7 (2%). In 19% of cases, no mutation was identified. Our cohort revealed a higher prevalence of CYP4F22 and ABCA12 pathogenic variants and a lower prevalence of TGM1 and NIPAL4 variants, as compared to data obtained in other regions of the world. Most variants (89%) in ALOX12B were associated with CIE and were the most common cause of ARCI among patients of Muslim origin (26%). Palmoplantar keratoderma associated with fissures was exclusively a result of pathogenic variants in TGM1. To our knowledge, this is the largest cohort study of ARCI in the Middle-Eastern population reported to date. Our data demonstrate the importance of population-tailored mutation screening strategies and shed light upon specific genotype-phenotype correlations.

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been identified to cause ARCI: TGM1, ALOX12B, ALOXE3, NIPAL4, CYP4F22, ABCA12, PNPLA1, CERS3, SDR9C7, and SULT2B1. The main focus of this report is the mutational spectrum of the genes ALOX12B and ALOXE3, which encode the epidermal lipoxygenases arachidonate 12-lipoxygenase, i.e., 12R type (12R-LOX), and the epidermis-type lipoxygenase-3 (eLOX3), respectively. Deficiency of 12R-LOX and eLOX3 disrupts the epidermal barrier function and leads to an abnormal epidermal differentiation. The type and the position of the mutations may influence the ARCI phenotype; most patients present with a mild erythrodermic ichthyosis, and only few individuals show severe erythroderma. To date, 88 pathogenic mutations in ALOX12B and 27 pathogenic mutations in ALOXE3 have been reported in the literature. Here, we presented a large cohort of 224 genetically characterized ARCI patients who carried mutations in these genes. We added 74 novel mutations in ALOX12B and 25 novel mutations in ALOXE3. We investigated the spectrum of mutations in ALOX12B and ALOXE3 in our cohort and additionally in the published mutations, the distribution of these mutations within the gene and gene domains, and potential hotspots and recurrent mutations.

Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling.

Data on vitamin D status of patients with inherited ichthyosis in Europe is scarce and unspecific concerning the genetic subtype. This study determined serum levels of 25-hydroxyvitamin D3 (25(OH)D3) in 87 patients with ichthyosis; 69 patients were additionally analysed for parathyroid hormone. Vitamin D deficiency was pronounced in keratinopathic ichthyosis (n = 17; median 25(OH)D3: 10.5 ng/ml), harlequin ichthyosis (n = 2;7.0 ng/ml) and rare syndromic sub-types (n = 3; 7.0 ng/ml). Vitamin D levels were reduced in TG1-proficient lamellar ichthyosis (n = 15; 8.9 ng/ml), TG1-deficient lamellar ichthyosis (n = 12; 11.7 ng/ml), congenital ichthyosiform erythroderma (n = 13; 12.4 ng/ml), Netherton syndrome (n = 7; 10.7 ng/ml) and X-linked ichthyosis (n = 8; 13.9 ng/ml). In ichthyosis vulgaris 25(OH)D3 levels were higher (n = 10; 19.7 ng/ml). Parathyroid hormone was elevated in 12 patients. Low 25(OH)D3 levels were associated with high severity of scaling (p = 0.03) implicating scaling as a risk factor for vitamin D deficiency. Thus, this study supports our recent guidelines for ichthyoses, which recommend screening for and substituting of vitamin D deficiency.

Congenital Ichthyosiform Erythroderma

Congenital Ichthyosiform Erythroderma

Bullous Congenital Ichthyosiform Erythroderma: Management of Otological Manifestations

Bullous Congenital Ichthyosiform Erythroderma (BCIE) is a rare form of congenital ichthyosis which...

CYP4F22 gene mutations in patients with autosomal recessive congenital ichthyosis: Identification of two novel mutations

Background: Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous keratinization disorder, which is clinically classified into five main forms: Lamellar ichthyosis, congenital ichthyosiform erythroderma, harlequin ichthyosis, self-healing collodion baby, and bathing suit ichthyosis. Mutations in TGM1, ABCA12, ALOX12B, ALOXE3, NIPAL4, CYP4F22, PNPLA1, LIPN, and CERS3 genes have been described in patients with ARCI. However, in 20% of the ARCI patients, the genetic defect remains unknown. Materials and Methods: In this study, we investigated the mutations in the CYP4F22 gene in ARCI patients who do not have mutations in two common ARCI genes, NIPAL4 and TGM1. Twenty-two patients diagnosed with ARCI and having no mutations in TGM1 and NIPAL4 genes were included in the study. Their CYP4F22 genes were sequenced using the Sanger sequencing method. Results: In 5 of 22 (22.7%) ARCI patients, four different mutations, of which two were previously reported, were found. The two novel mutations were c.976C> T and c.1189C> T. The c.727C> T and c.1303C>T mutations were previously reported. Conclusions: This study expands the CYP4F22 mutation spectrum and to provide more accurate genetic counseling for patients at risk.

Report of an autosomal recessive epidermolytic ichthyosis

Epidermolytic ichthyosis (EI) previously named bullous congenital ichthyosiform erythroderma of Brocq or epidermolytic hyperkeratosis (mostly considered as a histological term now) is rare with a variable defect of cornification, clinically characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life while hyperkeratosis increases. It is usually inherited in an autosomal-dominant fashion and is caused by the mutations in the genes KRT1 and KRT10, coding for the proteins keratin 1 and keratin 10, respectively. To date, only six recessive KRT10 mutations have been shown to cause autosomal-recessive EI, all of which have been found to lead to the complete absence of the keratin 10 protein. To the best of our knowledge, this is the first such case report from India.

Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.

BackgroundThe NIPAL4 gene is described to be implicated of Congenital Ichthyosiform Erythroderma (CIE). It encodes a magnesium transporter membrane‐associated protein, hypothetically involved in epidermal lipid processing and in lamellar body formation. The aim of this work is to investigate the causative mutation in a consanguineous Tunisian family with a clinical feature of CIE with a yellowish severe palmoplantar keratoderma.MethodsFour patients were dignosed with CIE. The blood samples were collected from patients and all members of their nuclear family for mutation analysis. The novel mutation of NIPAL4 gene was analysed with several software tools to predict its pathogenicity. Then, the secondary structure and the 3D model of ichthyn was generated in silico.ResultsThe sequencing analysis of the NIPAL4 gene in patients revealed a novel homozygous missense mutation c.534A>C (p.E178D) in the exon 4. Bioinformatic tools predicted its pathogenicity. The secondary structure prediction and the 3D model construction expected the presence of 9 transmembrane helices and revealed that mutation p.E178D was located in the middle of the second transmembrane helices. Besides, the 3D model construction revealed that the p.E178D mutation is inducing a shrinking in the transport channel containing the mutated NIPA4 protein.ConclusionWe found a homozygous mutation in exon 4 of NIPAL4 c.534A>C (p.E178D), which was identified for the first time in our study. Bioinformatic investigations supported its involvement in the phenotype of patients with CIE. Interestingly, this mutation was located in the hypothetical transport channel cavity and leads to changes in the channel architecture, which would probably affect its transport function.

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings

BackgroundChanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations in the abhydrolase domain containing 5 gene (ABHD5). In CDS the skin involvement is the prevalent and always observed clinical feature, consisting of a non-bullous congenital ichthyosiform erythroderma (NCIE). Moreover, a variable involvement of the liver and neuromuscular system can be also observed. In this report, we aimed to perform the clinical and genetic characterization of a patient affected by CDS with atypical dermatological findings, considering this rare inborn error of neutral lipid metabolism.MethodsGenomic DNA samples obtained from patient and his parents were used to perform the sequencing of the ABHD5 exons and their intron/exon boundaries. Bioinformatic analyses were performed to investigate the possible effect of the identified mutation on protein structure.ResultsHere we present the case of a 29-year-old male patient with CDS, who, for long time, has been misdiagnosed as pityriasis rubra pilaris (PRP). He has a history of increasing hyperlipidemia; hepatomegaly associated with hepatosteatosis was also detected. ABHD5 molecular analysis revealed a novel missense mutation, the c.811G > A (p.G271R). Bioinformatic investigations showed that the variant has a deleterious effect on ABHD5 function, probably causing an incorrect folding of the mutant protein.ConclusionsThese results highlihts the importance of genetic testing for ABHD5 in unresolved cases of patients presenting unusual skin lesions, that resemble PRP, associated with a history of hyperlipidemia and nonalcoholic fatty liver.

Collodion baby-congenital ichthyosis: clinical review

Collodion baby is a rare form of congenital ichthyosis in which the entire body is covered by a parchment-like membrane. These neonates are at the risk of dehydration, sepsis, electrolyte disturbances, and temperature instability. It is inherited in autosomal recessive manner. We report a case of Collodion baby, born of a consanguineous marriage. Here, we present a short review of this condition and the various methods available for the prenatal diagnosis. A literature search was done using PubMed, Medline, and Google Scholar databases using the mesh terms “Ichthyosis”, “collodion baby”, “collodion membrane”, “Congenital ichthyosiform erythroderma”, and “Lamellar ichthyosis”.

Clinical case of Brock’s congenital ichthyosiform erythroderma

This article describes a sporadic case of Brock’s bullous congenital ichthyosiform erythroderma. This is a rare hereditary disease from the group of genodermatoses with an autosomal dominant type of inheri - tance. The questions of the prevalence of dermatosis, the variability of the clinical picture, the timeliness of the clinical diagnosis are considered. Particular attention is paid to skin manifestations and their differential diagnosis.