Conclusions: NISCH syndrome presenting as neonatal cholestasis is rarely reported from India. Phenotypic and genotypic heterogeneity in presentation has been observed in reported cases. [jcehepatology.com]

Clinical description The ichthyosis presents with diffuse white scales sparing the skin folds, and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. [orpha.net]

Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. [howlingpixel.com]

For the confrontation with an atypical presentation of a common disease or the classic presentation of an uncommon disease, the reader will hopefully fnd this book very useful. [books.google.com]

We report on the case of a 2-year-old boy from a consanguineous Moroccan family, presenting with NISCH syndrome and carrying the so-called Moroccan homozygous mutation (c.200-201delTT). [ncbi.nlm.nih.gov]

• Short Stature

  He had Cushingoid features, short stature with height less than 3rd percentile (69.6cm) and bone age of 2 years along with infantile face, voice and microphallus with a stretch penile length of 2.5 cm (<2 standard deviation for age) which were suggestive [ijdvl.com]

  stature with short trunk. [kegg.jp]

  stature Ataxia Muscle weakness Spasticity Abnormality of dental morphology Nephrocalcinosis Nephropathy Proximal tubulopathy Gastrointestinal hemorrhage Meningitis Nausea Decreased liver function Hypophosphatemia Shock Glycosuria Hyperuricemia Intestinal [mendelian.co]

  stature Robinow syndrome Omodysplasia 1 Campomelic dysplasia (CD) Stuve-Wiedemann syndrome 3M syndrome Kenny-Caffey syndrome Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I) Microcephalic osteodysplastic primordial dwarfism, type II [csirnotes.com]

• Alopecia

  Hair changes include hypotrichosis, scarring alopecia, sparse eyelashes and loss of the outer third of the eyebrows.4 Our patient had hypotrichosis with cicatricial occipital alopecia following an ulcer at birth (Figure 1). [elsevier.es]

  Resumen Neonatal Ichthyosis Sclerosing Cholangitis (NISCH) syndrome is a rare autosomal recessive condition characterized by ichthyosis, sclerosing cholangitis and alopecia. Only 5 patients have been described till now. [imbiomed.com.mx]

  Alopecia is also seen and cholestasis often progresses to sclerosing cholangitis. [genome.jp]

  ^ "OMIM Entry - # 607626 - ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; ILVASC". omim.org. Retrieved 2022-06-11. External links[edit] [en.wikipedia.org]

  More striking is the frontal hypotrichosis (scarring alopecia) of the scalp. [altmeyers.org]

• Skin Disease

  Alsafri1, Fabienne Charbit-Henrion2–4, Florence Lacaille4, Emmanuelle Bourrat6, Julie Steffann2,4,7 and Smail Hadj-Rabia1,4,7 1Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC-Necker), 2Department of Molecular [medicaljournals.se]

  While only a small number of skin diseases account for most visits to the physician, thousands of skin conditions have been described. [howlingpixel.com]

  Sparse scalp hair, wrinkled skin, and corneal abnormalities are observed in ... [kegg.jp]

  (PM/DM) Polymyalgia rheumatica Fibromyalgia Eosinophilic fasciitis Autophagic vacuolar myopathy Isaacs syndrome Skin diseases Skin and soft tissue diseases Lipodystrophy Congenital generalized lipodystrophy (CGL) Familial partial lipodystrophy Acquired [csirnotes.com]

• Pachyonychia

  Top matches: Low match PACHYONYCHIA CONGENITA Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. [mendelian.co]

  […] atrophy, PCT, PDALS, PEHO syndrome, PEL, PELVIS syndrome, PFAPA syndrome, PFIC, PHACE syndrome, PIBIDS syndrome, PJS, PLOSL, PMD, PNDM, POADS, POEMS syndrome, POF, POMC deficiency, PPA, PPHS, PPM-X, PPoma, PSEK, PSP, PTC-RCC, PTLAH, PTLD, Pachygyria, Pachyonychia [yumpu.com]

  […] hidrotic Ectodermal dysplasia/skin fragility syndrome Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) [PATH:hsa04514] Odontoonychodermal dysplasia Ectodermal dysplasia-syndactyly syndrome (EDSS) Acne inversa Anonychia congenita Pachyonychia [csirnotes.com]

• Sweating

  Glean all essential, up-to-date, need-to-know information with new chapters on Papulosquamous and Lichenoid Disorders, Acneiform and Sweat-gland disorders and two individual chapters on Vascular Malformations and Vascular Tumors. [books.google.com]

  […] alveolar microlithiasis (PALM) Idiopathic pulmonary fibrosis Chronic obstructive pulmonary disease (COPD) Idiopathic interstitial pneumonias Primary alveolar hypoventilation syndrome Tracheobronchial diseases Bronchiectasis with or without elevated sweat [csirnotes.com]

• Skin Rash

  Vomiting Acidosis Abdominal pain Hypoglycemia Lactic acidosis Lethargy Orthokeratosis Concave nail Metabolic acidosis Dry skin Hyperhidrosis Nail dystrophy Palmoplantar keratoderma Abnormal blistering of the skin Abnormality of the hair Abnormality of [mendelian.co]

• Seizure

  Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. [mendelian.co]

  Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) Benign familial neonatal and infantile epilepsies Ataxia with ocular apraxia (AOA) Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) Idiopathic generalied [csirnotes.com]

The basic workup for the aetiology of neonatal cholestasis was negative. A liver biopsy was done which revealed confluent necrosis with Porto-portal fibrosis without bile ductule proliferation. [jcehepatology.com]

Management and treatment Treatments aim at improving symptoms and survival. Liver transplant remains the only effective treatment in case of liver failure. [orpha.net]

Readers will come away with a full overview of the diagnosis and treatment of cholestatic liver diseases. [books.google.com]

See also the following treatment articles: Treatments for Ichthyosis Treatments for Alopecia Causes See also causal information: Causes of Ichthyosis Causes of Alopecia Similar Topic Articles Ichthyosis Leukocyte vacuoles Alopecia Sclerosing cholangitis [familydiagnosis.com]

The currently limited availability of clinical and therapeutic data does not allow accurate prediction of the course of the disease and short- and long-term prognosis. Moreover, substantial interindividual variability has been reported. [ncbi.nlm.nih.gov]

Prognosis and course of the disease depend exclusively on the severity and course of the liver disease. Literature This section has been translated automatically. [altmeyers.org]

The prognosis of this disorder is extremely poor, as patients die in infancy. Most deaths are due to recurrent infection, acidosis and critical bleeding [ 2 ]. [casereports.in]

Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst 2003;19:484-9. 2. Pilu G, Visentin A, Valeri B. The Dandy-Walker complex and fetal sonography. Ultrasound Obstet Gynecol 2000;16:115-7. 3. [tmj.ro]

Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. [howlingpixel.com]

Etiology NISCH syndrome is caused by a mutation in the CLDN1 gene coding for the tight junction protein claudin-1. Diagnostic methods Diagnosis is based on clinical, biochemical and histological features. [orpha.net]

Dandy-Walker malformation: etiologic heterogenity and empiric recurrence risk. Clin Genet 1985;28:272. 10. Hata T, Yanagihara T, Matsumoto M, et al.: Three-dimensional sonographic features of fetal central nervous system anomaly. [tmj.ro]

Summary Epidemiology Less than ten patients (from unrelated consanguineous Moroccan families and from Sweden) have been reported so far. [orpha.net]

You might also be interested in Internal medicine Occurrence/Epidemiology This section has been translated automatically. < 20 patients have been described so far as sporadic cases and in unrelated consanguine Moroccan families and in Sweden (Szepetowski [altmeyers.org]

Relevant External Links for CLDN1 Genetic Association Database (GAD) CLDN1 Human Genome Epidemiology (HuGE) Navigator CLDN1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: CLDN1 No data available for Genatlas for CLDN1 Gene Assignment [genecards.org]

CLDN1 is required to prevent the paracellular diffusion of small molecules through tight junctions in the epidermis and is required for the normal barrier function of the skin. [genecards.org]

TJs prevent diffusion of solutes through the intercellular spaces in simple and stratified epithelia. Mice lacking claudin-1 (an adhesion molecule at TJs) show dehydration from the skin by impaired barrier function of epidermal TJs. [jle.com]

Research Institute defines precision medicine as an …”Emerging approach for disease treatment and prevention that takes into account individual variability in environment, lifestyle and genes for each person.” [human-enhancement-and-evolution.campus.ciencias.ulisboa.pt]

Tight junctions prevent the free movement of molecules and ions through the paracellular space and help maintain cell polarity (apical v. basolateral). From Wikipedia. Occludins were the first integral TJ proteins discovered. [sulab.org]

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space [medicaljournals.se]