NISCH syndrome: An extremely rare cause of neonatal cholestasis

Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome

“…To the best of our knowledge (liver biopsy was not clinically justified), our patients did not present transient neonatal jaundice, transient cholestasis, or sclerosing cholangitis. This variability of biliary and hepatic expression has been reported before, also within the same family 1–3,7,13 …”

Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature

“…Characteristic dermatological findings include scalp hypotrichosis, dystrophic hair, cicatricial frontoparietal alopecia, sparse eyelashes and eyebrows, and ichthyosis with diffuse white scales not involving the skin folds (Baala et al , 2002). Alopecia, hypotrichosis, and ichthyosis have been reported in all of the published cases like in our case and these signs seem to be the hallmarks of NISCH syndrome (Feldmeyer et al , 2006; Nagtzaam et al , 2010, 2018; Shah and Bhatnagar, 2010; Paganelli et al , 2011; Kirchmeier et al , 2014; Youssefian et al , 2017; Izurieta Pacheco et al , 2020; Salik et al , 2022). Our patient had alopecia at birth and hair growth began when he was 2-years old.…”

“…Anomalies of eyebrows and eyelashes have been reported in only 15 of 21 previous cases whereas, the remaining case reports did not mention this sign. Our patient also had sparse eyebrows and eyelashes, so this sign can be speculated as a common sign in NISCH syndrome (Baala et al , 2002; Hadj-Rabia et al , 2004; Shah and Bhatnagar, 2010; Paganelli et al , 2011; Kirchmeier et al , 2014; Youssefian et al , 2017; Nagtzaam et al , 2018; Izurieta Pacheco et al , 2020; Salik et al , 2022). Histopathological findings of skin identified in NISCH syndrome include follicular keratosis, orthokeratosis, acanthosis, parakeratosis, papillomatosis, intracytoplasmic vacuoles in keratinocytes, and granular layer hyperplasia (Baala et al , 2002; Paganelli et al , 2011).…”

Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report

“…ILVASC, or NISCH, is a rare autosomal recessive disease with only 19 patients reported in the literature so far. [3][4][5][6][7][8][9][10][11][12] It is characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, neonatal sclerosing cholangitis, and in some cases, dental anomalies such as oligodontia and enamel dysplasia. 3 It is caused by a bi-allelic loss-of-function pathogenic variants in the CLDN1 gene encoding the 211-amino-acid-long claudin-1 integral membrane protein, which is located at tight junctions.…”

“…ILVASC, or NISCH, is a rare autosomal recessive disease with only 19 patients reported in the literature so far 3–12 . It is characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, neonatal sclerosing cholangitis, and in some cases, dental anomalies such as oligodontia and enamel dysplasia 3 .…”