Genomes and Genes
congenital ichthyosiform erythroderma
Summary: Designation for several severe forms of ichthyosis, present at birth, that are characterized by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalized scaling. The forms include bullous (HYPERKERATOSIS, EPIDERMOLYTIC), non-bullous (ICHTHYOSIS, LAMELLAR), wet type, and dry type.
- Eckl K, Krieg P, Kuster W, Traupe H, André F, Wittstruck N, et al. Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005;26:351-61 pubmed
- Hazen P, Jeromin A, Lesh A, Lewandowski A, Dunstan R, Petrelli M, et al. Familial ichthyosiform keratoderma in newly out-of-pouch Bennett's wallabies (Macropus rufogriseus) and report of two cases. Vet Dermatol. 2007;18:23-8 pubmed..The combination of clinical features and electron microscopic findings strongly suggests a syndrome analogous to harlequin ichthyosis or lamellar ichthyosis in humans. ..
- Akiyama M. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci. 2006;42:83-9 pubmed..several severe subtypes including harlequin ichthyosis (HI), lamellar ichthyosis and non-bullous congenital ichthyosiform erythroderma. Patients with these severe types of ichthyoses frequently show severe hyperkeratosis and scales ..
- Messmer E, Kenyon K, Rittinger O, Janecke A, Kampik A. Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Ophthalmology. 2005;112:e1-6 pubmed..Lid abnormalities, corneal surface instability, limbal stem cell deficiency with resulting corneal complications, and dry eye are the main ocular manifestations. ..
- Godic A, Dragos V. Successful treatment of Netherton's syndrome with topical calcipotriol. Eur J Dermatol. 2004;14:115-7 pubmed..To evaluate calcipotriol's long-term efficacy and safety it should be tested on a larger group of patients with NS. ..
- König A, Skrzypek J, Loffler H, Oeffner F, Grzeschik K, Happle R. Donor dominance cures CHILD nevus. Dermatology. 2010;220:340-5 pubmed publisher..Patients suffer from an inflammatory nevus that covers large areas, predominantly of one side of the body, with a sharp midline demarcation. Treatment of CHILD nevus is notoriously difficult...
- Schmidt Sidor B, Obersztyn E, Szymanska K, Wychowski J, Mierzewska H, Wierzba Bobrowicz T, et al. Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome. Folia Neuropathol. 2008;46:232-7 pubmed..Analysis of child DNA isolated from skin fibroblasts showed missense mutation c.1046A>G;PpY349C in the NSDHL gene that could cause the phenotype. ..
- Shawky R, Sayed N, Elhawary N. Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families. Dis Markers. 2004;20:325-32 pubmed..We clearly demonstrated that the ARCI Egyptian families in Upper Egypt was ethnically pure and had a tendency not to be a hybrid with other populations in Lower Egypt, Delta zone and Cairo city. ..
- Gupta N, Gothwal S, Satpathy A, Missaglia S, Tavian D, Das P, et al. Chanarin Dorfman syndrome: a case report with novel nonsense mutation. Gene. 2016;575:359-62 pubmed publisher..It is inherited as an autosomal recessive manner. It is characterized with congenital ichthyosiform erythroderma and involvement of liver, muscle, and central nervous system...
- Krasagakis K, Ioannidou D, Stephanidou M, Manios A, Panayiotides J, Tosca A. Early development of multiple epithelial neoplasms in Netherton syndrome. Dermatology. 2003;207:182-4 pubmedWe report a case of Netherton syndrome manifested as congenital ichthyosiform erythroderma, trichorrhexis invaginata and atopy, who in early adulthood developed multiple, aggressive epithelial neoplasms in sun-exposed areas of the skin, ..
- Finn L, Zhang M, Chen S, Scott C. Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses. Am J Med Genet. 2000;91:222-6 pubmed..The apoptosis of neuronal cells from the anterior horns and brainstem are a reasonable explanation for the arthrogryposis and neonatal death, respectively. ..
- Bitoun E, Chavanas S, Irvine A, Lonie L, Bodemer C, Paradisi M, et al. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol. 2002;118:352-61 pubmed..Interfamilial and intrafamilial variation in disease severity was observed, with no clear correlation between mutations and phenotype, suggesting that the degree of severity may be affected by other factors. ..
- Akiyama M, Takizawa Y, Kokaji T, Shimizu H. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. Br J Dermatol. 2001;144:401-7 pubmed..novel mutations in the transglutaminase (TGase) 1 gene (TGM1) in a Japanese boy with non-bullous congenital ichthyosiform erythroderma (NBCIE). The patient showed fine, grey or light-brown scales on an erythematous skin...
- Cheng J, Syder A, Yu Q, Letai A, Paller A, Fuchs E. The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. Cell. 1992;70:811-9 pubmed..They also suggest a correlation between filament disorganization and either cytokinesis or nuclear shape, giving rise to the seemingly binucleate cells typical of EH. ..
- Andre E, Till M, Descargues P, Cordier M, Fouilhoux A, Haftek M, et al. [Netherton syndrome: a type of infantile erythroderma with failure to thrive, immune deficiency, rickets. Report of 3 cases]. Arch Pediatr. 2005;12:1364-7 pubmed..Prenatal diagnosis is possible. Two of our patients had rickets, which has never been described in such patients population. ..
- ÃœnlÃ¼soy Aksu A, SarÄ± S, EÄŸritaÅŸ GÃ¼rkan Ã, DalgÄ±Ã§ B. Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl. Turk J Pediatr. 2015;57:300-3 pubmed..The clinical phenotype involves multiple organs and systems. Ichthyosis, nonbullous congenital ichthyosiform erythroderma and cytoplasmic accumulation of lipid droplets in granulocytes (Jordans' bodies) are always ..
- Chander R, Varghese B, Jabeen M, Garg T, Jain M. CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India. Dermatol Online J. 2010;16:6 pubmed..The rarity of the syndrome prompted us to report this case. ..
- Brown V, Farrant P, Turner R, Price M, Burge S. Multiple aggressive squamous skin cancers in association with nonbullous congenital ichthyosiform erythroderma. Br J Dermatol. 2008;158:1125-8 pubmed publisherNonbullous congenital ichthyosiform erythroderma (NBCIE) is one of the autosomal recessive inherited non-syndromic ichthyoses and is currently diagnosed on clinical grounds alone. Skin cancer is not a recognized complication of NBCIE...
- Watanabe D, Zako M, Tamada Y, Matsumoto Y. A case of keratitis-ichthyosis-deafness (KID) syndrome. Int J Dermatol. 2007;46:400-2 pubmed..2). The mutation was not present in her parents or two siblings. These clinical, pathologic, and genetic data supported the diagnosis of keratitis-ichthyosis-deafness syndrome. ..
- Virolainen E, Niemi K, Ganemo A, Kere J, Vahlquist A, Saarialho Kere U. Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma. Br J Dermatol. 2001;145:480-3 pubmed..Autosomal recessive congenital ichthyosis (ARCI) can be clinically subdivided into congenital ichthyosiform erythroderma and lamellar ichthyosis...
- Becker K, Csikos M, Sárdy M, Szalai Z, Horvath A, Karpati S. Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma. Exp Dermatol. 2003;12:324-9 pubmedb>Congenital ichthyosiform erythroderma (CIE) belongs together with lamellar ichthyosis (LI) to the group of autosomal recessive congenital ichthyoses (ARCI)...
- Akiyama M, Sakai K, Yanagi T, Tabata N, Yamada M, Shimizu H. Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations. Br J Dermatol. 2010;163:201-4 pubmed publisherb>Congenital ichthyosiform erythroderma (CIE) (OMIM 242100) is a major type of autosomal recessive congenital ichthyosis (ARCI) showing generalized scaling and erythroderma without blister formation...
- Nigam S, Zafiriou M, Deva R, Kerstin N, Geilen C, Ciccoli R, et al. Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form. FEBS Lett. 2008;582:279-85 pubmed..We also presented a novel form of ichthyosis in a patient, termed hepoxilin A(3) synthase-linked ichthyosis (HXALI), whose scales expressed high levels of 12R-LOX, but were deficient of HXA(3) synthase. ..
- Hoang M, Carder K, Pandya A, Bennett M. Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome). Am J Dermatopathol. 2004;26:53-8 pubmed
- Ong C, O Toole E, Ghali L, Malone M, Smith V, Callard R, et al. LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome. Br J Dermatol. 2004;151:1253-7 pubmed..Immunohistochemistry of skin with an antibody against LEKTI is a potentially useful diagnostic test for NS. ..
- Hausser I, Anton Lamprecht I. Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome. Pediatr Dermatol. 1996;13:183-99 pubmed..Our aim is to call attention to and reaffirm that in congenital or early infantile cases of generalized exfoliative erythroderma. Netherton syndrome should be suspected as the underlying disease. ..
- Tsubota A, Akiyama M, Sakai K, Yanagi T, McMillan J, Higashi A, et al. Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens. Br J Dermatol. 2008;158:191-4 pubmed
- Galadari I, Al Kaabi J, Galadari H. Netherton syndrome. Skinmed. 2003;2:387-9 pubmed
- Wollenberg A, Geiger E, Schaller M, Wolff H. Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils. Acta Derm Venereol. 2000;80:39-43 pubmed
- Komatsu N, Saijoh K, Jayakumar A, Clayman G, Tohyama M, Suga Y, et al. Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients. J Invest Dermatol. 2008;128:1148-59 pubmed..KLK levels were significantly elevated in the SC and serum of NS patients. These data link LEKTI domain deficiency and clinical manifestations in NS patients and pinpoints to possibilities for targeted therapeutic interventions. ..
- Shwayder T, Ott F. All about ichthyosis. Pediatr Clin North Am. 1991;38:835-57 pubmed..This article covers the latest in pathophysiology, the major classes of ichthyoses, many of the newer minor ones, prenatal diagnosis, and treatment options. ..
- Capezzera R, Venturini M, Bianchi D, Zane C, Calzavara Pinton P. UVA1 phototherapy of Netherton syndrome. Acta Derm Venereol. 2004;84:69-70 pubmed
- Sun J, Linden K. Netherton syndrome: a case report and review of the literature. Int J Dermatol. 2006;45:693-7 pubmed..History and overall clinical findings, especially in regards to examination of the hair, will aid in diagnosis. ..
- Raghunath M, Tontsidou L, Oji V, Aufenvenne K, Schürmeyer Horst F, Jayakumar A, et al. SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. J Invest Dermatol. 2004;123:474-83 pubmed
- Shwayder T, Banerjee S. Netherton syndrome presenting as congenital psoriasis. Pediatr Dermatol. 1997;14:473-6 pubmed..It was not until he was 10 months of age, when terminal hairs grew with nodose irregularities (trichorrhexis invaginatum), that the correct diagnosis of Netherton syndrome was made. ..
- Stoll C, Alembik Y, Tchomakov D, Messer J, Heid E, Boehm N, et al. Severe hypernatremic dehydration in an infant with Netherton syndrome. Genet Couns. 2001;12:237-43 pubmed..Molecular studies revealed a mutation in SPINK 5, encoding a serine protease inhibitor. Prenatal diagnosis was performed in the second pregnancy and showed that the fetus was equally affected. ..
- EI Kabbany Z, Elsayed S, Rashad M, Tareef R, Galal N, Eisayed S. Dorfman-Chanarin syndrome in Egypt. Am J Med Genet A. 2003;121A:75-8 pubmed
- Van Gysel D, Koning H, Baert M, Savelkoul H, Neijens H, Oranje A. Clinico-immunological heterogeneity in Comèl-Netherton syndrome. Dermatology. 2001;202:99-107 pubmed..Low percentages of natural killer cells were observed in both CN patients. The regulation of IgE production in patients with CN is varied and complex. The CN patients were heterogeneous in terms of Th2 skewing. ..
- Goldsmith T, Fuchs Telem D, Israeli S, Sarig O, Padalon Brauch G, Bergman R, et al. The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12. Exp Dermatol. 2013;22:251-4 pubmed publisher..a consanguineous family of Arab Muslim origin with several members displaying a severe form of congenital ichthyosiform erythroderma. Using a panel of polymorphic microsatellite markers, we identified a region of homozygosity ..
- Soreide K, Soiland H, Körner H, Haga H, Söreide J. Acute pancreatitis in a young girl with the Netherton syndrome. J Pediatr Surg. 2005;40:e69-72 pubmed..This notion may be of clinical importance as it adds to the number of potential life-threatening events to patients with the Netherton syndrome. ..
- Kim C, Konig A, Bertola D, Albano L, Gattás G, Bornholdt D, et al. CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene. Dermatology. 2005;211:155-8 pubmed..The phenotype was shown to be associated with a deletion of exons 6-8 of the X-linked NSDHL gene, confirming that CHILD syndrome is due to loss of function of an enzyme involved in cholesterol biosynthesis. ..
- El Shabrawi Caelen L, Smolle J, Metze D, Ginter Hanselmayer G, Raghunath M, Traupe H, et al. Generalized exfoliative erythroderma since birth. Netherton syndrome. Arch Dermatol. 2004;140:1275-80 pubmed
- Geyer A, Ratajczak P, Pol Rodriguez M, Millar W, Garzon M, Richard G. Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5. Dermatology. 2005;210:308-14 pubmed..We further demonstrate for the first time that NTS may be associated with MRI abnormalities indicative of a permanent tissue injury of the brain. ..
- Gedicke M, Traupe H, Fischer B, Tinschert S, Hennies H. Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature. Br J Dermatol. 2006;154:167-71 pubmed..This revealed an equal expression of mutant and wild-type alleles of LOR in an affected individual. These findings further underline the gain-of-function theory for mutant LOR in loricrin keratoderma. ..
- Zhang X, Wei S, Li C, Xu X, He Y, Luo Q, et al. Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation. Clin Exp Dermatol. 2009;34:309-13 pubmed publisher..Keratitis-ichthyosis-deafness syndrome (KID) is a rare congenital disorder. Mutations in the GJB2 gene have recently been identified as the causative mutations of KID...
- Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009;129:1319-21 pubmed publisher..The story of ARCI provides an instructive example of synergy among geneticists, biochemists, and clinicians. ..
- Suzumura H, Nitta A, Arisaka O. Cerebro-oculo-facio-skeletal syndrome complicated by congenital ichthyosis. Clin Dysmorphol. 2006;15:39-40 pubmed
- Matsumoto K, Muto M, Seki S, Saida T, Horiuchi N, Takahashi H, et al. Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. Br J Dermatol. 2001;145:657-60 pubmed..sibling had both been born as collodion babies and were initially diagnosed as having non-bullous congenital ichthyosiform erythroderma, but later developed palmoplantar keratoderma with pseudoainhum...
- Lugassy J, Hennies H, Indelman M, Khamaysi Z, Bergman R, Sprecher E. Rapid detection of homozygous mutations in congenital recessive ichthyosis. Arch Dermatol Res. 2008;300:81-5 pubmed..2058delC) and FLJ39501 (p.W521X). The present data demonstrate that the molecular analyses of CRI in consanguineous families can be readily completed in less than 96 h at relatively low costs. ..
- Shimomura Y, Sato N, Kariya N, Takatsuka S, Ito M. Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules. Br J Dermatol. 2005;153:1026-30 pubmed..The result of immunohistochemistry shows LEKTI deficiency and upregulation of elafin in the skin of one patient. Furthermore, our data indicate that degradation of Dsg1 does not always occur in NS. ..