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Congenital ichthyosiform erythroderma

MedGen UID:
86936
Concept ID:
C0079583
Disease or Syndrome
Synonyms: Congenital ichthyosis
SNOMED CT: Ichthyosiform dermatosis (268282005); Congenital ichthyosiform erythroderma (254156001); Alligator skin (254156001); Ichthyosiform erythroderma (268282005)
 
HPO: HP:0007431

Definition

An ichthyosiform abnormality of the skin with congenital onset. [from HPO]

Term Hierarchy

Conditions with this feature

X-linked ichthyosis with steryl-sulfatase deficiency
MedGen UID:
86937
Concept ID:
C0079588
Disease or Syndrome
X-linked ichthyosis is clinically characterized by widespread, dark brown, polygonal scales and generalized dryness. Cutaneous manifestations are present soon after birth and usually do not improve with age. The histopathology of XLI typically shows compact hyperkeratosis and slight acanthosis with a normal granular layer (summary by Takeichi and Akiyama, 2016). X-linked ichthyosis is fundamentally the same disorder as placental steroid sulfatase deficiency, which is often first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition (Alperin and Shapiro, 1997). This is thus an example of affinity ('lumping') of phenotypes thought previously to be separate, the opposite of genetic heterogeneity. Schnyder (1970) gave a useful classification of the inherited ichthyoses. Hernandez-Martin et al. (1999) provided a comprehensive review of X-linked ichthyosis. They pointed out that among all genetic disorders X-linked ichthyosis shows one of the highest ratios of chromosomal deletions; complete deletion has been found in up to 90% of patients. Takeichi and Akiyama (2016) reviewed inherited nonsyndromic forms of ichthyosis.
Autosomal recessive congenital ichthyosis 4B
MedGen UID:
116092
Concept ID:
C0239849
Disease or Syndrome
Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.
Chondrodysplasia punctata 2 X-linked dominant
MedGen UID:
79381
Concept ID:
C0282102
Disease or Syndrome
The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including adults with no recognizable physical abnormalities. At least 95% of liveborn individuals with CDPX2 are female with the following findings: Growth deficiency/short stature. Distinctive craniofacial appearance. Skeletal changes: stippling (chondrodysplasia punctate) on x-rays of the epiphyses of the long bones and vertebrae, the trachea and distal ends of the ribs seen in children prior to completion of normal epiphyseal ossification; rhizomelic (i.e., proximal) shortening of limbs that is often asymmetric; scoliosis. Ectodermal changes: linear or blotchy scaling ichthyosis in the newborn that usually resolves in the first months of life leaving linear or whorled atrophic patches involving hair follicles (follicular atrophoderma); coarse hair with scarring alopecia; occasional flattened or split nails; normal teeth. Ocular changes: cataracts; microphthalmia and/or microcornea. Intellect is usually normal. Rarely affected males have been identified with a phenotype that includes: hypotonia; moderate to profound developmental delay; seizures; cerebellar (primarily vermis) hypoplasia and/or Dandy-Walker variant; and agenesis of the corpus callosum.
Autosomal recessive congenital ichthyosis 4A
MedGen UID:
371355
Concept ID:
C1832550
Congenital Abnormality
Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.
Ichthyosis-hypotrichosis syndrome
MedGen UID:
332073
Concept ID:
C1835851
Disease or Syndrome
gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.
Ichthyosis and male hypogonadism
MedGen UID:
333456
Concept ID:
C1839989
Disease or Syndrome
Sjogren-Larsson-like syndrome
MedGen UID:
336532
Concept ID:
C1849195
Disease or Syndrome
Ichthyosis, split hairs, and amino aciduria
MedGen UID:
344576
Concept ID:
C1855786
Disease or Syndrome
Autosomal recessive congenital ichthyosis 2
MedGen UID:
383774
Concept ID:
C1855792
Disease or Syndrome
Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.
Cataract and congenital ichthyosis
MedGen UID:
347122
Concept ID:
C1859315
Disease or Syndrome
Autosomal recessive congenital ichthyosis 1
MedGen UID:
760723
Concept ID:
C3536797
Disease or Syndrome
Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.
Autosomal recessive congenital ichthyosis 9
MedGen UID:
767263
Concept ID:
C3554349
Disease or Syndrome
Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.
Autosomal recessive congenital ichthyosis 10
MedGen UID:
767269
Concept ID:
C3554355
Disease or Syndrome
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).

Recent clinical studies

Etiology

Jaju P, Novoa RA, Swetter SM, Sarin KY
Pediatr Dermatol 2017 Jan;34(1):e35-e36. Epub 2016 Nov 4 doi: 10.1111/pde.13012. PMID: 27813222
Wang T, Xu C, Zhou X, Li C, Zhang H, Lian BQ, Lee JJ, Shen J, Liu Y, Lian CG
Int J Mol Sci 2015 Sep 9;16(9):21791-801. doi: 10.3390/ijms160921791. PMID: 26370990Free PMC Article
Harting M, Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G, Scaglia F, Yan AC, Levy ML
Arch Dermatol 2008 Mar;144(3):351-6. doi: 10.1001/archderm.144.3.351. PMID: 18347291
Brown VL, Farrant PB, Turner RJ, Price ML, Burge SM
Br J Dermatol 2008 May;158(5):1125-8. Epub 2008 Feb 15 doi: 10.1111/j.1365-2133.2008.08463.x. PMID: 18279460
Sprecher E, Tesfaye-Kedjela A, Ratajczak P, Bergman R, Richard G
Clin Exp Dermatol 2004 Sep;29(5):513-7. doi: 10.1111/j.1365-2230.2004.01589.x. PMID: 15347338

Diagnosis

Galler B, Bowen C, Arnold J, Kobayashi T, Dalton SR
J Cutan Pathol 2016 May;43(5):434-7. Epub 2016 Apr 4 doi: 10.1111/cup.12680. PMID: 26969483
Vyas NS, Kannan S, N Jahnke M, Hu RH, Choate KA, Shwayder TA
Pediatr Dermatol 2016 Jan-Feb;33(1):e6-9. Epub 2015 Dec 8 doi: 10.1111/pde.12728. PMID: 26645853
Wang T, Xu C, Zhou X, Li C, Zhang H, Lian BQ, Lee JJ, Shen J, Liu Y, Lian CG
Int J Mol Sci 2015 Sep 9;16(9):21791-801. doi: 10.3390/ijms160921791. PMID: 26370990Free PMC Article
Harting M, Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G, Scaglia F, Yan AC, Levy ML
Arch Dermatol 2008 Mar;144(3):351-6. doi: 10.1001/archderm.144.3.351. PMID: 18347291
Brown VL, Farrant PB, Turner RJ, Price ML, Burge SM
Br J Dermatol 2008 May;158(5):1125-8. Epub 2008 Feb 15 doi: 10.1111/j.1365-2133.2008.08463.x. PMID: 18279460

Therapy

Wang T, Xu C, Zhou X, Li C, Zhang H, Lian BQ, Lee JJ, Shen J, Liu Y, Lian CG
Int J Mol Sci 2015 Sep 9;16(9):21791-801. doi: 10.3390/ijms160921791. PMID: 26370990Free PMC Article
Green JS, Donovan T, Siegfried EC
Pediatr Dermatol 2011 Jan-Feb;28(1):68-70. Epub 2011 Jan 25 doi: 10.1111/j.1525-1470.2010.01364.x. PMID: 21276063
Alikhan A, Farshidi D, Shwayder T
Dermatol Online J 2009 Sep 15;15(9):3. PMID: 19930990
Bhagat SB, Bhagat SS, Sharma HK, Naik M, Amin P, Pandit J
J Pediatr Orthop B 2007 Nov;16(6):423-8. doi: 10.1097/BPB.0b013e3282f14342. PMID: 17909341
Haftek M, Cambazard F, Dhouailly D, Réano A, Simon M, Lachaux A, Serre G, Claudy A, Schmitt D
Br J Dermatol 1996 Sep;135(3):448-53. PMID: 8949442

Prognosis

Rubio-Gomez GA, Weinstein M, Pope E
J Am Acad Dermatol 2014 Mar;70(3):506-11. Epub 2013 Dec 24 doi: 10.1016/j.jaad.2013.11.002. PMID: 24373778
Badeli HR, Sajedi SA, Tangestaninejad A, Ahmadian MR, Alipour Kanafi K
Iran J Kidney Dis 2007 Oct;1(2):102-4. PMID: 19363284
Nomura K, Umeki K, Hatayama I, Kuronuma T
Arch Dermatol 2001 Sep;137(9):1192-5. PMID: 11559215
Akiyama M, Takizawa Y, Kokaji T, Shimizu H
Br J Dermatol 2001 Feb;144(2):401-7. PMID: 11251583
McLean WH, Morley SM, Higgins C, Bowden PE, White M, Leigh IM, Lane EB
Exp Dermatol 1999 Apr;8(2):120-3. PMID: 10232402

Clinical prediction guides

Harting M, Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G, Scaglia F, Yan AC, Levy ML
Arch Dermatol 2008 Mar;144(3):351-6. doi: 10.1001/archderm.144.3.351. PMID: 18347291
Kawashima J, Akiyama M, Takizawa Y, Takahashi S, Matsuo I, Shimizu H
Clin Exp Dermatol 2005 Jul;30(4):429-31. doi: 10.1111/j.1365-2230.2005.01818.x. PMID: 15953088
Nomura K, Umeki K, Hatayama I, Kuronuma T
Arch Dermatol 2001 Sep;137(9):1192-5. PMID: 11559215
McLean WH, Morley SM, Higgins C, Bowden PE, White M, Leigh IM, Lane EB
Exp Dermatol 1999 Apr;8(2):120-3. PMID: 10232402
Pigg M, Gedde-Dahl T Jr, Cox D, Hausser I, Anton-Lamprecht I, Dahl N
Eur J Hum Genet 1998 Nov-Dec;6(6):589-96. doi: 10.1038/sj.ejhg.5200224. PMID: 9887377

Recent systematic reviews

Hernández-Martín A, González-Sarmiento R
Curr Opin Pediatr 2015 Aug;27(4):473-9. doi: 10.1097/MOP.0000000000000239. PMID: 26164154
Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L
J Am Acad Dermatol 2008 Jul;59(1):86-90. doi: 10.1016/j.jaad.2008.02.031. PMID: 18571597Free PMC Article

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