Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome

Paganelli, Massimiliano; Stéphenne, Xavier; Gilis, Allison; Jacquemin, Emmanuel; Caude, Alexandra Henrion; Girard, M; Gonzalès, Emmanuel; Revençu, Nicole; Reding, Raymond; Wanty, Catherine; Smets, Françoise; Sokal, Étienne

doi:10.1097/mpg.0b013e3182169433

Cited by 40 publications

(19 citation statements)

References 19 publications

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“…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.…”

Section: Discussionsupporting

confidence: 71%

“…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).…”

Section: Discussionmentioning

confidence: 63%

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

Demir

Kırşaçlıoğlu

Saltık-Temizel³

et al. 2023

Clinical Dysmorphology

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Section: Discussionsupporting

confidence: 71%

Section: Discussionmentioning

confidence: 63%

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

Demir

Kırşaçlıoğlu

Saltık-Temizel³

et al. 2023

Clinical Dysmorphology

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“…The disease is characterized by vulgar type ichthyosis, hypotrichosis with alopecia and sparse eyelashes/eyebrows with varying extents. In some patients, changes in the SC were shown [ 68 , 69 , 70 , 71 , 72 ]. To our knowledge, skin barrier function tests addressing this rare disease have not been published yet.…”

Section: Which Skin Barriers Have To Be Overcome?mentioning

confidence: 99%

Skin Barriers in Dermal Drug Delivery: Which Barriers Have to Be Overcome and How Can We Measure Them?

et al. 2020

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Although, drugs are required in the various skin compartments such as viable epidermis, dermis, or hair follicles, to efficiently treat skin diseases, drug delivery into and across the skin is still challenging. An improved understanding of skin barrier physiology is mandatory to optimize drug penetration and permeation. The various barriers of the skin have to be known in detail, which means methods are needed to measure their functionality and outside-in or inside-out passage of molecules through the various barriers. In this review, we summarize our current knowledge about mechanical barriers, i.e., stratum corneum and tight junctions, in interfollicular epidermis, hair follicles and glands. Furthermore, we discuss the barrier properties of the basement membrane and dermal blood vessels. Barrier alterations found in skin of patients with atopic dermatitis are described. Finally, we critically compare the up-to-date applicability of several physical, biochemical and microscopic methods such as transepidermal water loss, impedance spectroscopy, Raman spectroscopy, immunohistochemical stainings, optical coherence microscopy and multiphoton microscopy to distinctly address the different barriers and to measure permeation through these barriers in vitro and in vivo.

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“…Patients with NISCH are born with generalized skin, hair and nail abnormalities. The liver disease is said to affect both cholangiocytes and hepatocytes and the biopsy appearance varies even in patients with the same mutation, and can demonstrate typical sclerosing cholangitis features or non-specific hepatocellular and canalicular cholestasis with normal bile ducts [92] . The variability of phenotype expression suggests that variants in other genes may influence liver disease severity.…”

Section: Disorders Of Polarizationmentioning

confidence: 99%

Structural and functional hepatocyte polarity and liver disease

Gissen

Arias

2015

Journal of Hepatology

245

217

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SummaryHepatocytes form a crucially important cell layer that separates sinusoidal blood from the canalicular bile. They have a uniquely organized polarity with a basal membrane facing liver sinusoidal endothelial cells, while one or more apical poles can contribute to several bile canaliculi jointly with the directly opposing hepatocytes. Establishment and maintenance of hepatocyte polarity is essential for many functions of hepatocytes and requires carefully orchestrated cooperation between cell adhesion molecules, cell junctions, cytoskeleton, extracellular matrix and intracellular trafficking machinery. The process of hepatocyte polarization requires energy and, if abnormal, may result in severe liver disease.A number of inherited disorders affecting tight junction and intracellular trafficking proteins have been described and demonstrate clinical and pathophysiological features overlapping those of the genetic cholestatic liver diseases caused by defects in canalicular ABC transporters. Thus both structural and functional components contribute to the final hepatocyte polarity phenotype. Many acquired liver diseases target factors that determine hepatocyte polarity, such as junctional proteins. Hepatocyte depolarization frequently occurs but is rarely recognized because hematoxylin-eosin staining does not identify the bile canaliculus. However, the molecular mechanisms underlying these defects are not well understood. Here we aim to provide an update on the key factors determining hepatocyte polarity and how it is affected in inherited and acquired diseases.

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Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome

Cited by 40 publications

References 19 publications

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

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

Skin Barriers in Dermal Drug Delivery: Which Barriers Have to Be Overcome and How Can We Measure Them?

Structural and functional hepatocyte polarity and liver disease

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