ichthyosis

Summary

Summary: Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.

Top Publications

  1. Tang L, Liang J, Wang W, Yu L, Yao Z. A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family. J Am Acad Dermatol. 2011;64:716-22 pubmed publisher
    b>Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare congenital disorder...
  2. Li Q, Frank M, Akiyama M, Shimizu H, Ho S, Thisse C, et al. Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis. Dis Model Mech. 2011;4:777-85 pubmed publisher
    ..These morphological findings are akin to epidermal changes in harlequin ichthyosis and CEDNIK syndrome, autosomal recessive keratinization disorders due to mutations in the ABCA12 and SNAP29 ..
  3. Schütz M, Auth T, Gehrt A, Bosen F, Körber I, Strenzke N, et al. The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome. Hum Mol Genet. 2011;20:28-39 pubmed publisher
    ..In this study, we investigated the Cx26S17F mutation in mice, which had been identified to cause the keratitis-ichthyosis-deafness (KID) syndrome in humans...
  4. Nyquist G, Mumm C, Grau R, Crowson A, Shurman D, Benedetto P, et al. Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. Am J Med Genet A. 2007;143A:734-41 pubmed
    ..Based on our findings, we believe that cancer surveillance in patients with KID syndrome should include screening for pilar tumors and their early removal to avoid development of malignant proliferating pilar tumors with poor prognosis. ..
  5. Verfaille C, Vanhoutte F, Blanchet Bardon C, van Steensel M, Steijlen P. Oral liarozole vs. acitretin in the treatment of ichthyosis: a phase II/III multicentre, double-blind, randomized, active-controlled study. Br J Dermatol. 2007;156:965-73 pubmed
    Liarozole, a retinoic acid metabolism blocking agent, has been granted orphan drug status for congenital ichthyosis by the European Commission and the U.S. Food and Drug Administration...
  6. Szabo R, Kosa P, List K, Bugge T. Loss of matriptase suppression underlies spint1 mutation-associated ichthyosis and postnatal lethality. Am J Pathol. 2009;174:2015-22 pubmed publisher
    ..This study identifies matriptase suppression as an essential function of HAI-1 in postnatal tissue homeostasis. ..
  7. Aldahmesh M, Mohamed J, AlKuraya H, Verma I, Puri R, Alaiya A, et al. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet. 2011;89:745-50 pubmed publisher
    ..These individuals exhibit clinical features of ichthyosis, seizures, mental retardation, and spasticity-a constellation that resembles Sjögren-Larsson syndrome (SLS) but ..
  8. Tsolia M, Aroni K, Konstantopoulou I, Karpathios T, Tsoukatou T, Paraskevakou H, et al. Ichthyosis follicularis with alopecia and photophobia in a girl with cataract: histological and electron microscopy findings. Acta Derm Venereol. 2005;85:51-5 pubmed
    A rare congenital ectodermal disorder characterized by ichthyosis follicularis, alopecia and photophobia has been designated the acronym IFAP...
  9. Yotsumoto S, Hashiguchi T, Chen X, Ohtake N, Tomitaka A, Akamatsu H, et al. Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. Br J Dermatol. 2003;148:649-53 pubmed
    ..in the GJB2 gene that encodes connexin-26 (Cx26) have recently been found to be the cause of the keratitis-ichthyosis-deafness (KID) syndrome. To define the GJB2 mutations in three Japanese patients with KID syndrome...

More Information

Publications62

  1. Traboulsi E, Waked N, Megarbane H, Megarbane A. Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. Ophthalmic Genet. 2004;25:153-6 pubmed
    ..To report the ocular findings in two siblings with IFAP and their mother and to review the natural course of the keratopathy of this disease...
  2. Mhaske P, Levit N, Li L, Wang H, Lee J, Shuja Z, et al. The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity. Am J Physiol Cell Physiol. 2013;304:C1150-8 pubmed publisher
    ..functional characteristics of two Cx26 mutations causing either mild (Cx26-D50A) or lethal (Cx26-A88V) keratitis-ichthyosis-deafness (KID) syndrome...
  3. Abdollahi A, Hallaji Z, Esmaili N, Valikhani M, Barzegari M, Akhyani M, et al. KID syndrome. Dermatol Online J. 2007;13:11 pubmed
    KID syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness...
  4. Avrahami L, Maas S, Pasmanik Chor M, Rainshtein L, Magal N, Smitt J, et al. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype. Clin Genet. 2008;74:47-53 pubmed publisher
    Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a ..
  5. Criscione V, Lachiewicz A, Robinson Bostom L, Grenier N, Dill S. Porokeratotic eccrine duct and hair follicle nevus (PEHFN) associated with keratitis-ichthyosis-deafness (KID) syndrome. Pediatr Dermatol. 2010;27:514-7 pubmed publisher
    ..We report a case of widespread Porokeratotic eccrine and hair follicle nevus that developed in a 15-year-old woman with keratitis-ichthyosis-deafness syndrome.
  6. Neoh C, Chen H, Ng S, Lane E, Common J. A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome. Int J Dermatol. 2009;48:1078-81 pubmed
    Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia characterized by generalized erythrokeratotic plaques, sensorineural hearing loss, and vascularizing keratitis...
  7. Maintz L, Betz R, Allam J, Wenzel J, Jaksche A, Friedrichs N, et al. Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad. Eur J Dermatol. 2005;15:347-52 pubmed
    Keratitis-Ichthyosis-Deafness syndrome is a rare congenital disorder of the ectoderm caused by mutations in the connexin-26 gene (GJB2) on chromosome 13q11-q12, giving rise to keratitis, erythrokeratoderma and neurosensory deafness...
  8. Vahlquist A, Bygum A, Gånemo A, Virtanen M, Hellström Pigg M, Strauss G, et al. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. J Invest Dermatol. 2010;130:438-43 pubmed publisher
    Infants born with autosomal recessive congenital ichthyosis (ARCI) are often encapsulated in a collodion membrane, which shows a lamellar or erythrodermic type of ichthyosis upon shedding...
  9. Montgomery J, White T, Martin B, Turner M, Holland S. A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad. J Am Acad Dermatol. 2004;51:377-82 pubmed
    ..ichthyosiform scaling, follicular hyperkeratosis, and mild keratitis, features consistent with keratitis-ichthyosis-deafness syndrome...
  10. Klar J, Gedde Dahl T, Larsson M, Pigg M, Carlsson B, Tentler D, et al. Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13. J Med Genet. 2004;41:208-12 pubmed
  11. Lee J, DeRosa A, White T. Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes. J Invest Dermatol. 2009;129:870-8 pubmed publisher
    ..This set of data confirms that aberrant hemichannel activity is a common feature of Cx26 mutations associated with KID syndrome, and this may contribute to a loss of cell viability and tissue integrity. ..
  12. al Gazali L, Hertecant J, Algawi K, El Teraifi H, Dattani M. A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. Am J Med Genet A. 2008;146A:813-9 pubmed publisher
    We report on an inbred Emirati family of Baluchi origin with ocular colobomas, ichthyosis, and endocrine abnormalities associated with midline brain malformations and mental retardation...
  13. Lee J, White T. Connexin-26 mutations in deafness and skin disease. Expert Rev Mol Med. 2009;11:e35 pubmed publisher
    ..but also cause syndromic deafness associated with skin disorders such as palmoplantar keratoderma, keratitis-ichthyosis deafness syndrome, Vohwinkel syndrome, hystrix-ichthyosis deafness syndrome and Bart-Pumphrey syndrome...
  14. Elias P, Williams M, Holleran W, Jiang Y, Schmuth M. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. J Lipid Res. 2008;49:697-714 pubmed publisher
    ..Similar mechanisms account for the barrier abnormalities (and subsequent ichthyosis) in inherited disorders of polar lipid metabolism...
  15. De Raeve L, Bonduelle M, Deconinck H, Roseeuw D, Stene J. Trichothiodystrophy-like hair abnormalities in a child with keratitis ichthyosis deafness syndrome. Pediatr Dermatol. 2008;25:466-9 pubmed publisher
    Keratitis ichthyosis deafness syndrome is a rare congenital ectodermal disorder. It appears to be genetically heterogeneous and may be caused by mutations in the connexin 26 (Cx26) gene (GJB2) or in the connexin 30 gene...
  16. Akiyama M, Shimizu H. An update on molecular aspects of the non-syndromic ichthyoses. Exp Dermatol. 2008;17:373-82 pubmed publisher
    b>Ichthyosis includes a number of subtypes from congenital severe forms, such as harlequin ichthyosis (HI), to mild non-congenital forms, such as ichthyosis vulgaris...
  17. Schmuth M, Gruber R, Elias P, Williams M. Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv Dermatol. 2007;23:231-56 pubmed
  18. Mese G, Sellitto C, Li L, Wang H, Valiunas V, Richard G, et al. The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. Mol Biol Cell. 2011;22:4776-86 pubmed publisher
    ..produce a gain of function and cause syndromic deafness associated with skin disorders, such as keratitis-ichthyosis-deafness syndrome (KIDS)...
  19. Nakayama J, Iwasaki N, Shin K, Sato H, Kamo M, Ohyama M, et al. A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation. J Hum Genet. 2011;56:250-2 pubmed publisher
    b>Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia and photophobia...
  20. Barker E, Briggs R. Cochlear implantation in children with keratitis-ichthyosis-deafness (KID) syndrome: outcomes in three cases. Cochlear Implants Int. 2009;10:166-73 pubmed publisher
    Three children with keratitis-ichthyosis-deafness (KID) syndrome received cochlear implants at the Royal Victorian Eye and Ear Hospital...
  21. Rai V, Shenoi S. Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome. Indian J Dermatol Venereol Leprol. 2006;72:136-8 pubmed
    ..Cutaneous examination revealed diffuse thinning of scalp hair with loss of eyebrows and eyelashes and a sandpapery texture of the skin all over the body, suggestive of ichthyosis follicularis with alopecia and photophobia syndrome.
  22. Terrinoni A, Codispoti A, Serra V, Didona B, Bruno E, Nistico R, et al. Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. Biochem Biophys Res Commun. 2010;394:909-14 pubmed publisher
    ..These results help to explain the pathogenesis of both the hearing and skin phenotypes, since calcium is also a potent regulator of the epidermal differentiation process. ..
  23. Koppelhus U, Tranebjaerg L, Esberg G, Ramsing M, Lodahl M, Rendtorff N, et al. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome. Clin Exp Dermatol. 2011;36:142-8 pubmed publisher
    Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal disorder, caused by heterozygous missense mutation in GJB2, encoding the gap junction protein connexin 26. The commonest mutation is the p...
  24. List K, Currie B, Scharschmidt T, Szabo R, Shireman J, Molinolo A, et al. Autosomal ichthyosis with hypotrichosis syndrome displays low matriptase proteolytic activity and is phenocopied in ST14 hypomorphic mice. J Biol Chem. 2007;282:36714-23 pubmed
    Human autosomal recessive ichthyosis with hypotrichosis (ARIH) is an inherited disorder recently linked to homozygosity for a point mutation in the ST14 gene that causes a G827R mutation in the matriptase serine protease domain (G216 in ..
  25. Gerido D, DeRosa A, Richard G, White T. Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness. Am J Physiol Cell Physiol. 2007;293:C337-45 pubmed
    ..expression system to examine the functional characteristics of a Cx26 mutation (G45E) that results in keratitis-ichthyosis-deafness syndrome (KIDS) with a fatal outcome...
  26. Mazereeuw Hautier J, Dreyfus I, Barbarot S, Serrentino L, Bourdon Lanoy E, Ezzedine K, et al. Factors influencing quality of life in patients with inherited ichthyosis: a qualitative study in adults using focus groups. Br J Dermatol. 2012;166:646-8 pubmed publisher
    There is limited information regarding quality of life in patients with inherited ichthyosis. To identify factors influencing quality of life in patients with inherited ichthyosis...
  27. Grosse B, Cassio D, Yousef N, Bernardo C, Jacquemin E, Gonzales E. Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability. Hepatology. 2012;55:1249-59 pubmed publisher
    Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome is a liver disease caused by mutations of CLDN1 encoding Claudin-1, a tight-junction (TJ) protein...
  28. Sprecher E, Ishida Yamamoto A, Mizrahi Koren M, Rapaport D, Goldsher D, Indelman M, et al. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet. 2005;77:242-51 pubmed
    ..present report, we describe a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK syndrome)...
  29. Akiyama M, Tsuji Abe Y, Yanagihara M, Nakajima K, Kodama H, Yaosaka M, et al. Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. Br J Dermatol. 2005;152:1353-6 pubmed
    b>Ichthyosis bullosa of Siemens (IBS, MIM 146800) is a unique congenital ichthyosis characterized by mild epidermal hyperkeratosis over flexural areas, blister formation and the development of superficially denuded areas of hyperkeratotic ..
  30. Schmuth M, Martinz V, Janecke A, Fauth C, Schossig A, Zschocke J, et al. Inherited ichthyoses/generalized Mendelian disorders of cornification. Eur J Hum Genet. 2013;21:123-33 pubmed publisher
    ..For the clinician, this review outlines an algorithmic approach for utilizing diagnostic clues to narrow down the differential diagnosis and to guide further testing and treatment options. ..
  31. Hadj Rabia S, Baala L, Vabres P, Hamel Teillac D, Jacquemin E, Fabre M, et al. Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology. 2004;127:1386-90 pubmed
    ..We previously assigned a syndrome associating ichthyosis and neonatal sclerosing cholangitis (NISCH syndrome) to chromosome 3q27-q28...
  32. Rice R, Crumrine D, Hohl D, Munro C, Elias P. Cross-linked envelopes in nail plate in lamellar ichthyosis. Br J Dermatol. 2003;149:1050-4 pubmed
    ..Defective CE formation occurs in epidermal scale and hair in transglutaminase 1 (TGM1)-negative lamellar ichthyosis (LI) and has been proposed as a diagnostic aid for this syndrome...
  33. Israeli S, Khamaysi Z, Fuchs Telem D, Nousbeck J, Bergman R, Sarig O, et al. A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Am J Hum Genet. 2011;88:482-7 pubmed publisher
    ..In the present study, we describe a late-onset form of recessive ichthyosis in a large consanguineous pedigree...
  34. Khnykin D, Rønnevig J, Johnsson M, Sitek J, Blaas H, Hausser I, et al. Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism. J Am Acad Dermatol. 2012;66:606-16 pubmed publisher
    b>Ichthyosis prematurity syndrome (IPS) is classified as a syndromic congenital ichthyosis based on the presence of skin changes at birth, ultrastructural abnormalities in the epidermis, and extracutaneous manifestations...
  35. Blaydon D, Nitoiu D, Eckl K, Cabral R, Bland P, Hausser I, et al. Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. Am J Hum Genet. 2011;89:564-71 pubmed publisher
    Autosomal-recessive exfoliative ichthyosis presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of nonerythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor ..
  36. Milagres S, Sanches J, Milagres A, Valente N. Histopathological and immunohistochemical assessment of acquired ichthyosis in patients with human T-cell lymphotropic virus type I-associated myelopathy. Br J Dermatol. 2003;149:776-81 pubmed
    ..virus type I (HTLV-I)-associated myelopathy frequently display cutaneous alterations such as acquired ichthyosis. Elucidation of the pattern of acquired ichthyosis in HTLV-I-associated myelopathy...
  37. Hewett D, Simons A, Mangan N, Jolin H, Green S, Fallon P, et al. Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome. Hum Mol Genet. 2005;14:335-46 pubmed
    ..Newborn spink5(R820X/R820X) mice develop a lethal, severe ichthyosis with a loss of skin barrier function and dehydration, resulting in death within a few hours of birth, similar to ..
  38. Bygum A, Westermark P, Brandrup F. Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype. J Am Acad Dermatol. 2008;59:S71-4 pubmed publisher
    b>Ichthyosis prematurity syndrome is a rare syndrome characterized by the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. We describe two siblings with ichthyosis prematurity syndrome...
  39. Nagtzaam I, van Geel M, Driessen A, Steijlen P, van Steensel M. Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype. Br J Dermatol. 2010;163:205-7 pubmed publisher
    Neonatal ichthyosis-sclerosing cholangitis (NISCh) syndrome is a rare autosomal recessive disorder associated with scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis...
  40. Mazereeuw Hautier J, Bitoun E, Chevrant Breton J, Man S, Bodemer C, Prins C, et al. Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br J Dermatol. 2007;156:1015-9 pubmed
    Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by the association of skin lesions, hearing loss and vascularizing keratitis...
  41. Lonardo F, Parenti G, Luquetti D, Annunziata I, Della Monica M, Perone L, et al. Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. Eur J Med Genet. 2007;50:301-8 pubmed
    ..gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism, anosmia, ocular albinism, short stature and mental ..
  42. Janecke A, Hennies H, Günther B, Gansl G, Smolle J, Messmer E, et al. GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Am J Med Genet A. 2005;133A:128-31 pubmed
    Keratitis-ichthyosis-deafness syndrome (KID; MIM 148210) is a rare congenital disorder characterized by vascularizing keratitis, sensorineural hearing loss (HL), and progressive erythrokeratoderma...
  43. Chabas A, Gort L, Diaz Font A, Montfort M, Santamaria R, Cidrás M, et al. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease. Blood Cells Mol Dis. 2005;35:253-8 pubmed
    ..features of the severe perinatal form are hepatosplenomegaly variable, associated with hydrops fetalis and ichthyosis. Here, we describe a child who presented generalized ichthyosis and died at 25 days of age...
  44. Khandpur S, Bhat R, Ramam M. Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin. J Eur Acad Dermatol Venereol. 2005;19:759-62 pubmed
    We describe a 3-year-old male patient with the ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome, who developed cutaneous and ocular involvement in infancy...
  45. Arita K, Akiyama M, Aizawa T, Umetsu Y, Segawa I, Goto M, et al. A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26. Am J Pathol. 2006;169:416-23 pubmed
    ..We have found a novel mutation, N14Y, in the N-terminal domain of Cx26 in a case of keratitis-ichthyosis-deafness syndrome...
  46. Griffith A, Yang Y, Pryor S, Park H, Jabs E, Nadol J, et al. Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome. Laryngoscope. 2006;116:1404-8 pubmed
    ..The study subject was a male infant with keratitis-ichthyosis-deafness (KID) syndrome...
  47. Kelly B, Lozano A, Altenberg G, Makishima T. Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. Int J Dermatol. 2008;47:443-7 pubmed publisher
    Keratitis-ichthyosis-deafness (KID) syndrome most commonly results from a mutation in the gap-junctional protein connexin 26 (Cx26) gene, GJB2. Most cases are sporadic and are associated with sensorineural hearing loss.
  48. Lazic T, Horii K, Richard G, Wasserman D, Antaya R. A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?. Pediatr Dermatol. 2008;25:535-40 pubmed publisher
    Keratitis-ichthyosis-deafness syndrome is a rare congenital ectodermal disorder, characterized by presence of skin lesions, neurosensory hearing loss, and vascularizing keratitis...
  49. Jonard L, Feldmann D, Parsy C, Freitag S, Sinico M, Koval C, et al. A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. Eur J Med Genet. 2008;51:35-43 pubmed
    Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect. KID consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness...
  50. Desilets A, Béliveau F, Vandal G, McDuff F, Lavigne P, Leduc R. Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease. J Biol Chem. 2008;283:10535-42 pubmed publisher
    ..It was recently shown that a rare genetic disorder, autosomal recessive ichthyosis with hypotrichosis, is caused by a mutation in the coding region of matriptase...
  51. Alef T, Torres S, Hausser I, Metze D, Tursen U, Lestringant G, et al. Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. J Invest Dermatol. 2009;129:862-9 pubmed publisher
    Congenital ichthyosis encompasses a heterogeneous group of disorders of cornification. Isolated forms and syndromic ichthyosis can be differentiated...
  52. Li H, Vahlquist A, Torma H. Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis. J Dermatol Sci. 2013;69:195-201 pubmed publisher
    Autosomal recessive congenital ichthyosis (ARCI) is caused by mutations in ?10 different genes, of which transglutaminase-1 (TGM1) predominates...
  53. Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol. 2010;63:607-41 pubmed publisher
    ..The classification project started at the First World Conference on Ichthyosis in 2007...