Genetic syndrome with ichthyosis: congenital ichthyosis, follicular atrophoderma, hypotrichosis, and woolly hair; second report

Türsen, Ümit; Kaya, Tamer İrfan; İkizoğlu, Güliz; Aktekın, Mustafa

doi:10.1046/j.1365-2133.2002.48461.x

Cited by 20 publications

(13 citation statements)

References 9 publications

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“…9 -11,13,22,31 Homozygosity for mutations in the ST14 gene was recently shown to be the etiological origin of two human syndromes termed congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis and autosomal recessive ichthyosis with hypotrichosis. [32][33][34][35][36] Mice with wholesale deletion of the St14 gene complete embryonic development, but they die shortly after birth as a consequence of compromised epidermal barrier function. 37,38 However, an St14 hypomorphic mouse strain, generated by insertion of a retroviral targeting vector into intron 1 of the St14 gene, which displays 1% residual matriptase mRNA levels in the epidermis and up to 18% residual mRNA levels in other tissues, has normal postnatal and long-term survival, revealing that low matriptase suffices to maintain epithelial homeostasis.…”

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confidence: 99%

Loss of Matriptase Suppression Underlies Spint1 Mutation-Associated Ichthyosis and Postnatal Lethality

Szabo

Kósa

List

et al. 2009

The American Journal of Pathology

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Hepatocyte growth factor activator inhibitor-1 (HAI)-1 is an epithelial Kunitz-type transmembrane serine protease inhibitor that is encoded by the SPINT1 gene. HAI-1 displays potent inhibitory activity toward a large number of trypsin-like serine proteases. HAI-1 was recently shown to play an essential role in postnatal epithelial homeostasis. Thus, Spint1-deficient mice were found to display severe growth retardation and are unable to survive beyond postnatal day 16. The mice present histologically with overt hyperkeratosis of the forestomach, hyperkeratosis and acanthosis of the epidermis, and hypotrichosis associated with abnormal cuticle development. In this study, we show that loss of inhibition of a proteolytic pathway that is dependent on the type II transmembrane serine protease, matriptase, underlies the detrimental effects of postnatal Spint1 deficiency. Matriptase and HAI-1 precisely co-localize in all tissues that are affected by the Spint1 disruption. Spint1-deficient mice that have low matriptase levels, caused by a hypomorphic mutation in the St14 gene that encodes matriptase, not only survived the neonatal period but were healthy and displayed normal long-term survival. Furthermore, a detailed histological analysis of neonatal, young adult, as well as aged mice did not reveal any abnormalities in Spint1-deficent mice that have low matriptase levels. This study identifies matriptase suppression as an essential function of HAI-1 in postnatal tissue homeostasis. Trypsin-like serine proteases constitute a large family of secreted and membrane-bound proteolytic enzymes that operate in the pericellular environment to facilitate embryonic development tissue homeostasis, tissue remodeling, and tissue repair. These enzymes are synthesized as inactive precursors, or zymogens, that are converted to their catalytically active form by endoproteolytic cleavage within a highly conserved activation site. This activation step is irreversible, and proteolysis is terminated by specific macromolecular protease inhibitors that bind directly to the active site of their cognate proteases. 1-3Inhibition of trypsin-like serine proteases is mediated by a large number of serine protease inhibitors belonging to one of three structurally and functionally distinct families: serpin-type inhibitors, Kazal-type inhibitors, and Kunitztype inhibitors.1-3 Hepatocyte growth factor activator-1 (HAI-1) is a recently discovered membrane-associated Kunitz-type serine protease inhibitor. This peculiar serine protease inhibitor, which is structurally distinct from other previously described Kunitz-type inhibitors, is a type I transmembrane glycoprotein that consists of an N-terminal MANEC-domain followed by two extracellular Kunitztype inhibitory domains that are separated by a single low-density lipoprotein receptor type a repeat, and a C-terminal transmembrane/cytoplasmic tail domain. 4 -8 HAI-1 is widely expressed in embryonic and extra-embryonic epithelia of the developing embryo, as well as in simple, stratified and pseudo-stratif...

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confidence: 99%

Loss of Matriptase Suppression Underlies Spint1 Mutation-Associated Ichthyosis and Postnatal Lethality

Szabo

Kósa

List

et al. 2009

The American Journal of Pathology

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“…When WH is accompanied by palmoplantar keratoderma, it may be associated with fatal cardiomyopathy like Carvajal syndrome or Naxos syndrome [96], and hence this condition should alert the physician to a cardiac disease [97][98][99].…”

Section: Woolly Hairmentioning

confidence: 99%

Genetic Hair Disorders: A Review

Ahmed

Almohanna

Griggs

et al. 2019

Dermatol Ther (Heidelb)

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Hair loss in early childhood represents a broad differential diagnosis which can be a diagnostic and therapeutic challenge for a physician. It is important to consider the diagnosis of a genetic hair disorder. Genetic hair disorders are a large group of inherited disorders, many of which are rare. Genetic hair abnormalities in children can be an isolated phenomenon or part of genetic syndromes. Hair changes may be a significant finding or even the initial presentation of a syndrome giving a clue to the diagnosis, such as Netherton syndrome and trichothiodystrophy. Detailed history including family history and physical examination of hair and other ectodermal structures such as nails, sweat glands, and sebaceous glands with the use of dermoscopic devices and biopsy all provide important clues to establish the correct diagnosis. Understanding the pathophysiology of genetic hair defects will allow for better comprehension of their treatment and prognosis. For example, in patients with an isolated hair defect, the main problem is aesthetic. In contrast, when the hair defect is associated with a syndrome, the prognosis will depend mainly on the associated condition. Treatment of many genetic hair disorders is focused on treating the primary cause and minimizing trauma to the hair.

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“…Elliptical cross section, axial twisting, and occasional trichorrhexis nodosa are evident on microscopy . Associations include Naxos disease , Cavajal syndrome , Noonan syndrome , cardiofaciocutaneous syndrome , keratosis pilaris , ichthyosis , osteoma cutis , and nail dystrophy . The triad of WH, striate palmoplantar keratoderma, and fatal cardiomyopathy should be noted .…”

Section: Hair Shaft Disorders Without Fragilitymentioning

confidence: 99%

Prognosis and Management of Congenital Hair Shaft Disorders without Fragility—Part II

Singh

Miteva

2016

Pediatric Dermatology

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Hair shaft disorders are characterized by congenital or acquired abnormalities of the hair shaft. The objective of this study was to review the literature regarding the prognosis and treatment options for hair shaft disorders. We used keywords in the search engines PubMed and Medline to identify all publications in English related to the prognosis and management of hair shaft disorders. Data were extracted from 96 articles that met search criteria. Findings were limited to case reports and small case series, as no studies were found. Disorders that improve in childhood include pili torti, trichorrhexis invaginata, woolly hair, and pili trianguli et canaliculi. Others, such as trichorrhexis nodosa, monilethrix, pili annulati, and pili bifurcati, improve with minoxidil. Oral retinoids have been found to improve hair abnormalities in trichorrhexis invaginata and monilethrix. There is no specific treatment for congenital hair shaft abnormalities. Gentle hair care is the mainstay of care for hair shaft disorders associated with fragility. Practices for gentle care include no brushing, backcombing, chemical products, tight braids, heat exposure, or mechanical grooming. Furthermore, any inherited or congenital disorder requires genetic counseling as part of management.

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Genetic syndrome with ichthyosis: congenital ichthyosis, follicular atrophoderma, hypotrichosis, and woolly hair; second report

Cited by 20 publications

References 9 publications

Loss of Matriptase Suppression Underlies Spint1 Mutation-Associated Ichthyosis and Postnatal Lethality

Loss of Matriptase Suppression Underlies Spint1 Mutation-Associated Ichthyosis and Postnatal Lethality

Genetic Hair Disorders: A Review

Prognosis and Management of Congenital Hair Shaft Disorders without Fragility—Part II

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