Ichthyosis Syndrome Research Articles

Collodion Baby And Cholestasis: A Rare Case Report

Collodion baby with cholestasis is an uncommon condition. The term "collodion baby" refers to newborns with thick skin covering their entire body. Neonatal cholestasis is a form of conjugated cholestasis hyperbilirubinemia caused by reduced bile flow. The condition causes persistent jaundice (over two weeks) and elevated conjugated bilirubin. Genetic abnormalities or gene mutations have been reported in neonatal ichthyosis syndrome with cholestasis. A case report of a collodion baby, a rare congenital condition characterized by a parchment-like membrane covering the entire body, was brought to Dr. Soetomo General Academic Hospital. Prolonged jaundice was one of the other findings. A skin biopsy found characteristics consistent with the diagnosis of collodion in a newborn. The paediatric team managed this case, which was treated in collaboration with a dermatologist. This case showed that newborn collodion syndrome required skin care, cholestasis screening, and jaundice management from birth.

CEDNIK Syndrome, a Rare Neuro-Cutaneous Disorder in an Iranian Patient: Case Report and Review of Specific Neuro-Ichthyotic Syndromes

Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome is an autosomal recessive neuro-cutaneous disorder characterized by a collection of clinical manifestations, including microcephaly, cerebral dysgenesis, palmoplantar keratoderma, facial dysmorphism, and ichthyosis. The etiology of this condition has been proved to be a homozygous mutation in the SNAP29 gene, which has an essential role in dermatological and neurological manifestations of this syndrome. In this report, we present the first documented Iranian patient with CEDNIK syndrome. So far, only 14 cases of this condition have been reported globally.

171 Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome

Netherton syndrome (NS) is a rare, but severe autosomal-recessive ichthyosis syndrome characterized by a triad of ichthyosis, a hair shaft defect and atopic features. NS patients have a deficiency of serine protease inhibitor LEKTI in the stratum corneum, resulting in increased activity of serine proteases, accelerated desquamation of corneocytes and breakdown of the stratum corneum barrier, which accelerates percutaneous allergen sensitization. We performed a single-arm, prospective interventional study of the treatment with dupilumab, an interleukin (IL)-4 receptor α-antagonist that inhibits IL-4 and IL-13 signaling, for NS.

HiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers.

Inherited ichthyoses represent a large heterogeneous group of skin disorders characterised by impaired epidermal barrier function and disturbed cornification. Current knowledge about disease mechanisms has been uncovered mainly through the use of mouse models or human skin organotypic models. However, most mouse lines suffer from severe epidermal barrier defects causing neonatal death and human keratinocytes have very limited proliferation ability in vitro. Therefore, the development of disease models based on patient derived human induced pluripotent stem cells (hiPSCs) is highly relevant. For this purpose, we have generated hiPSCs from patients with congenital ichthyosis, either non-syndromic autosomal recessive congenital ichthyosis (ARCI) or the ichthyosis syndrome trichothiodystrophy (TTD). hiPSCs were successfully differentiated into basal keratinocyte-like cells (hiPSC-bKs), with high expression of epidermal keratins. In the presence of higher calcium concentrations, terminal differentiation of hiPSC-bKs was induced and markers KRT1 and IVL expressed. TTD1 hiPSC-bKs showed reduced expression of FLG, SPRR2B and lipoxygenase genes. ARCI hiPSC-bKs showed more severe defects, with downregulation of several cornification genes. The application of hiPSC technology to TTD1 and ARCI demonstrates the successful generation of in vitro models mimicking the disease phenotypes, proving a valuable system both for further molecular investigations and drug development for ichthyosis patients.

Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan

Autosomal recessive congenital ichthyosis (ARCI) and ichthyosis syndrome (IS) are rare genetic skin disorders. To estimate the number of patients with ARCI and IS in Japan and clarify the clinicoepidemiologic features of these diseases. We performed a nationwide survey of patients treated for ARCI or IS during January 2005-December 2009. We developed diagnostic criteria and conducted a primary survey in a stratified random sample of Japanese hospitals to quantify the number of outpatients and inpatients with ARCI or IS. We performed a secondary survey of clinicoepidemiologic features in positive cases. The estimated number of patients receiving treatment for ARCI and IS during 2005-2009 was 220 (95% confidence interval [CI] 180-260). The estimated disease distribution was as follows: 95 (95% CI 80-110) patients with nonbullous congenital ichthyosiform erythroderma, 30 (95% CI 20-40) with lamellar ichthyosis, 15 (95% CI 10-20) with harlequin ichthyosis, and 85 (95% CI 50-120) with IS. Patients with a mild case of the disease might not have visited a dermatology department, potentially causing underestimation of affected patients. We report the estimated number of patients with ARCI and IS in Japan and sex differences in the age distribution.

Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.

Syndromic ichthyosis is rare inherited disorders of cornification with varied disease complications. This disorder appears in seventeen subtypes associated with severe systematic manifestations along with medical, cosmetic and social problems. Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome. These syndromes mostly prevail in high consanguinity states, with distinctive clinical features. The known pathogenic molecules involved in ichthyosis syndromes with prominent hair abnormalities include SPINK5, ERCC2, ERCC3, GTF2H5, MPLKIP, ST14, CLDN1 and MBTPS2. Despite underlying genetic origin, most of the health professionals solely rely on phenotypic expression of these disorders that leads to improper management of patients, hence making these patients living an orphanage life. After dermal features, association of other systems such as nervous system, skeletal system, hair abnormalities or liver problems may sometimes give clues for diagnosis but still leaving place for molecular screening for efficient diagnosis. In this paper, we have presented a review of ichthyosis syndrome with prominent hair abnormalities, with special emphasis on their updated genetic consequences and disease management. Additionally, we aim to update health professionals about the practice of molecular screening in ichthyosis syndromes for appropriate diagnosis and treatment.

Keratitis, ichthyosis, and deafness syndrome: a case report

A 10 year-old female child developed erythema on the scalp, perioral area, neck, trunk, buttocks, palms and soles within 1 month after birth. Her skin was dry and rough, and the hairs were fine, soft, sparse and easily broken. As age advanced, typical hyperkeratosis and thickening of the skin occurred on an erythematous base. At the age of 5 years, the child developed photophobia and vision impairment. When the child was 8 years old, progressive hearing loss was observed. Physical examination revealed that the height and weight were 109 centimeters and 19 kilograms respectively. Skin examination showed fine, soft, sparse and easily-broken hair, large areas of brown plaques with crusts on the scalp, perioral area, neck, trunk and buttocks, and fissured, purulent and foul-smelling verrucous hyperplasia over these plaques. Brown to black hyperkeratotic plaques were scattered over the extremities, and diffuse hyperkeratosis occurred on the palms and soles. Both fingernails and toenails became thickened, cloudy and white with distal separation and deformation of the nail plate. As ophthalmic examination showed, the patient had photophobia, bilateral bulbar conjunctival hyperemia, corneal opacity and corneal vascular proliferation, and the visual acuity was 0.5 in the left eye and 0.2 in the right eye. Otolaryngological examination revealed moderate binaural sensorineural deafness. Stomatological examination showed enamel hypoplasia and diastema widening. Genetic testing showed a heterozygous mutation (c.C50T) in exon 2 of the gap junction protein beta 2 (GJB2) gene. Based on these clinical manifestations and examinations, the patient was diagnosed with keratitis, ichthyosis, and deafness (KID) syndrome. Skin lesions of the patient were significantly improved after the treatment with oral acitretin. Key words: Keratosis; Mutation; Acitretin; Genes, GJB2; Keratitis, ichthyosis, and deafness syndrome

Keratitis-ichthyosis-deafness syndrome: clinical aspects and pathogenesis

Keratitis-ichthyosis-deafness(KID)syndrome is a rare genodermatosis characterized by vascular keratitis, ichthyosis and congenital sensorineural deafness. Patients with KID syndrome have a natural susceptibility to fungal and bacterial infection, and mixed infection may occur in severe cases. Tumors often coexist with this syndrome. Studies indicate that the development and complicating tumors of KID syndrome are related to mutations in the connexin 26 gene, and mutations at different loci are associated with different clinical manifestations. In recent years, some treatments(such as keratoplasty, cochlear implantation, retinoids and bevacizumab)have somewhat worked in some patients, but complete treatment system should include therapies against infection and malignancy. Key words: Keratitis, ichthyosis, and deafness syndrome; Genes; Mutation

The stratum corneum: the rampart of the mammalian body

The stratum corneum (SC) is the outermost region of the epidermis and plays key roles in cutaneous barrier function in mammals. The SC is composed of 'bricks', represented by flattened, protein-enriched corneocytes, and 'mortar', represented by intercellular lipid-enriched layers. As a result of this 'bricks and mortar' structure, the SC can be considered as a 'rampart' that encloses water and solutes essential for physiological homeostasis and that protects mammals from physical, chemical and biological assaults. The corneocyte cytoskeleton contains tight bundles of keratin intermediate filaments aggregated with filaggrin monomers, which are subsequently degraded into natural moisturizing compounds by various proteases, including caspase 14. A cornified cell envelope is formed on the inner surface of the corneocyte plasma membrane by transglutaminase-catalysed cross-linking of involucrin and loricrin. Ceramides form a lipid envelope by covalently binding to the cornified cell envelope, and extracellular lamellar lipids play an important role in permeability barrier function. Corneodesmosomes are the main adhesive structures in the SC and are degraded by certain serine proteases, such as kallikreins, during desquamation. The roles of the different SC components, including the structural proteins in corneocytes, extracellular lipids and some proteins associated with lipid metabolism, have been investigated in genetically engineered mice and in naturally occurring hereditary skin diseases, such as ichthyosis, ichthyosis syndrome and atopic dermatitis in humans, cattle and dogs.

Confirmation of the origin of NISCH syndrome

Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome, a rare autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis, was described for the first time in 2002. It is caused by a mutation in the gene coding for the tight junction protein claudin-1. Only four patients carrying the same mutation of the CLDN1 gene have been described until now. We report a patient presenting with the clinical characteristics of NISCH syndrome and carrying a novel mutation in the CLDN1 gene.

Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies

A 56 year old man presented with ichthyosis vulgaris since early childhood, clinically characterised by fine scaling of the trunk and hyperkeratotic scales on the exterior surfaces of the upper and lower extremities. The patient also showed hypothyroidism due to hypoplastic thyroid, cataract, hypercholesterinemia with concommitant arcus cornealis and biliary concrements. Renal lithiasis caused by calcio-oxalate was additionally present. Endocrinological screening revealed growth hormone deficiency in the 1.55 m tall man-(secondary) osteoporosis was observed. The clinical symptomatology indicates that this case cannot be considered as a subtype of the inherited ichthyosis group, but suggests a new syndrome as a separate nosologic entity.

Homozygosity Mapping of a Locus for a Novel Syndromic Ichthyosis to Chromosome 3q27–q28

Ichthyosis is a heterogeneous group of skin disorders characterized by abnormal epidermal scaling. Occasionally, extracutaneous features are associated. A novel autosomal recessive ichthyosis syndrome is described here with scalp hypotrichosis, scarring alopecia, sclerosing cholangitis, and leukocyte vacuolization in two inbred kindreds of Moroccan origin. We also report the mapping of the diseased gene to a 21.2 cM interval of chromosome 3q27-q28. Homo zygosity for polymorphic markers has enabled us to reduce the genetic interval to a 16.2 cM region. Furthermore, comparison of mutant chromosomes in the two families has suggested a common ancestral mutant haplotype. This linkage disequilibrium has reduced the genetic interval encompassing the diseased gene to less than 9.5 cM maximum. Further study of additional families from the same geographic area will hopefully reduce the genetic interval as well as help in the cloning of the gene involved in this rare disorder.

A Case of Keratitis, Ichthyosis, and Deafness Syndrome With Hutchinson's Triad-like Symptoms

Association of keratitis, ichthyosis, and deafness is known as KID syndrome. Only four cases have been reported in Japan by dermatologists. A male infant manifested absence of hair and generalized keratosis of the skin since birth. He had been diagnosed as having chronic mucocutaneous candidiasis (CMCC). The patient manifested punctuate superficial keratopathy in the right eye and corneal opacity with peripheral neovascularization in the eye when initially seen at the age of 1 year and 4 months. The corneal lesion later developed into stromal keratitis with neovascularization in the stroma. Abnormalities simulating Hutchinson teeth were detected at the age of 4 years. Neurosensory deafness in the high-frequency region was detected at the age of 6 years. Serous tests for syphilis were consistently negative. This child is the first reported case in Japan manifesting KID syndrome with Hutchinson teeth. The associated CMCC was interpreted as due to liability to infection in patients with KID syndrome.

Keratitis, ichthyosis and deafness (KID) syndrome

Keratitis, ichthyosis and deafness (KID) syndrome

Increased incidence of cutaneous carcinomas in patients with congenital ichthyosis

It is well known that patients with heritable cutaneous diseases may have excess tumors during their lifetime. This relationship has been shown for such diverse conditions as xeroderma pigmentosum, Bloom syndrome, basal cell nevus syndrome, and psoriasis. However, multiple cutaneous tumors have not been previously described in people with lamellar ichthyosis. This article describes the cases of two such patients, possible treatment, and a previously undescribed ichthyosis syndrome.

Keratitis, ichthyosis, and deafness (KID) syndrome: a case report

Keratitis, ichthyosis, and deafness (KID) syndrome: a case report

Keratitis, Ichthyosis, and Deafness (KID) Syndrome: A Report of 2 Cases

Keratitis, Ichthyosis, and Deafness (KID) Syndrome: A Report of 2 Cases

New congenital ichthyosis syndrome with microcephalus, spastic quadriplegia, myoclonus, and EEG abnormality

New congenital ichthyosis syndrome with microcephalus, spastic quadriplegia, myoclonus, and EEG abnormality

Keratitis, Ichthyosis, and Deafness (KID) Syndrome with Adult Onset of Keratitis Component

Keratitis, Ichthyosis, and Deafness (KID) Syndrome with Adult Onset of Keratitis Component

A syndrom characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria

A syndrome of congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria is described in three siblings in a family of a consanguineous marriage. Renal glycosuria and uricosuria were noted in some affected and unaffected members. It is postulated that these two renal tubular reabsorption defects are independent of the ichthyosis syndrome and are transmitted as a dominant defect, whereas the syndrome is inherited as an autosomal recessive disorder.