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Congenital Non-Bullous Ichthyosiform Erythroderma ARCI2

CIE


Presentation

  • Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. [ read more ] 22246504[nectarmutation.org]
  • […] ichthyosiform erythroderma (CIE); non-bullous CIE (n-CIE) OMIM: 242100 Inheritance: autosomal recessive in most cases Incidence: 1:100,000 Key findings: skin: generalized, fine, light-colored scale; skin is always red, sometimes intensely so; ectropion present[firstskinfoundation.org]
  • Here, we present evidence that 12R-LOX and eLOX-3, acting in sequence, and eLOX-3 in combination with another, not yet identified LOX are critically involved in terminal differentiation of keratinocytes and adipocytes, respectively [8].[wikigenes.org]
  • Case Presentation A 47-year-old Caucasian male presented to the emergency department (ED) for diffuse erythema and pruritus of three weeks’ duration.[cureus.com]
  • Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.[uniprot.org]
Developmental Delay
  • Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay.[nectarmutation.org]
  • Developmental delay is seen inapproximately one-third of patients in speech andlanguage and fine and gross motor skills. In earlychildhood, recurrent skin infections are common;implicated organisms include methicillin-resistantFigure 1.[documents.tips]
Increased Susceptibility to Infections
  • susceptibility to infections of the skin; heat intolerance is common Diagnostic tests: genetic testing of the blood Abnormal gene(s): mutations have been identified in a variety of genes including transglutaminase 1 (TGM1), 12R-lipoxygenase (ALOX12B)[firstskinfoundation.org]
Heat Intolerance
  • intolerance is common Diagnostic tests: genetic testing of the blood Abnormal gene(s): mutations have been identified in a variety of genes including transglutaminase 1 (TGM1), 12R-lipoxygenase (ALOX12B), lipoxygenase-3 (ALOXE3), ATP-binding cassette[firstskinfoundation.org]
Hepatomegaly
  • Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay.[nectarmutation.org]
  • Slightly less than half of the patients had splenomegaly and hepatomegaly, and slightly less than half had lymphadenopathy.[cureus.com]
  • Mild-to-moderate hepatomegaly seen in 13.3% of cases was related to drug-induced erythroderma. None of the patients had splenomegaly.[ncbi.nlm.nih.gov]
Myopathy
  • Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay.[nectarmutation.org]
Erythema
  • The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma. [ read more ] 16679289 18606822 11590543 17495960 ALOX12B causing ARCI2 242100[nectarmutation.org]
  • Conclusions Erythroderma is defined clinically as generalized erythema and scaling of the skin.[cureus.com]
  • Erythema may be very mild and almost\ninvisible. Some affected persons exhibit scarring alopecia, and many\nhave secondary anhidrosis (summary by Eckl et al., 2005).[lifemodules.org]
  • 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.[diseaseinfosearch.org]
  • Erythema appeared first followed by scaling over a period of 4-5 days. In acute cases, scales were large and easily detachable and in chronic cases, they were of smaller size.[ncbi.nlm.nih.gov]
Alopecia
  • In classical CIE (unlike LI) there is little eclabion (eversion of the lips), ectropion and alopecia (hair loss). Many people with ACRI don't fit neatly into the definition of LI or CIE but have characteristics of both diseases.[en.wikipediam.org]
  • In severe cases, there is an absence of hair growth (alopecia) in certain areas, often affecting the scalp and eyebrows. In individuals with NBCIE, some of the skin problems may improve by adulthood. Life expectancy is normal in people with NBCIE.[ghr.nlm.nih.gov]
  • Some affected persons exhibit scarring alopecia, and many\nhave secondary anhidrosis (summary by Eckl et al., 2005).[lifemodules.org]
Anhidrosis
  • Some people with NBCIE have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma), decreased or absent sweating (anhidrosis), and abnormal nails (nail dystrophy).[ghr.nlm.nih.gov]
  • Some affected persons exhibit scarring alopecia, and many\nhave secondary anhidrosis (summary by Eckl et al., 2005).[lifemodules.org]
  • Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {14:Eckl et al., 2005}).[diseaseinfosearch.org]
Dry Skin
  • The abnormal skin cannot protect against fluid loss (dehydration) or the outside environment, leading to problems controlling body temperature; dry skin; the formation of fine, white scales; and increased risk of infections in people with NBCIE.[ghr.nlm.nih.gov]
  • She exhibited generalized thick dry skin with ichthyosis on the soles, but by the age of 10 months, her skin condition greatly improved.[cags.org.ae]
  • The patient diagnosed with erythroderma caused by exacerbation of a xerotic eczema had a ten-year history of relapsing pruriginous and erythematous patches on both anterior shins, associated with dry skin.[ncbi.nlm.nih.gov]
Skin Fissure
Suggestibility
  • […] always red, sometimes intensely so; ectropion present, but often mild; thickening of palms, soles and flexures common; may have overlap with ARCI-lamellar ichthyosis type due to shared gene mutations hair: normal or sparse; abnormal-appearing hairs suggest[firstskinfoundation.org]
  • Genetic and biochemical evidence suggests a functional link between human 12R-lipoxygenase ( 12R-LOX ) and epidermal lipoxygenase-3 (eLOX3) in normal differentiation of the epidermis; LOX -derived fatty acid hydroperoxide is isomerized by the atypical[wikigenes.org]
  • Table 2 Initial diagnostic testing for the erythrodermic infant Note : a Subspecialty consultation suggested.[dovepress.com]
  • For atopic dermatitis as a cause, the past history of atopy and characteristic distribution pattern are suggestive of the disease.[ncbi.nlm.nih.gov]
  • Consultation with a dermatologist may provide the admitting physician with suggestions regarding biopsy and for local skin care. A. Immediate management.[cancertherapyadvisor.com]
Seizure
  • Entry Name Description Category Pathway Gene H00063 Spinocerebellar ataxia (SCA) The dominantly inherited ataxias or spinocerebellar ataxias (SCAs) are a clinically heterogeneous group of progressive disorders which characteraized by cerebellar ataxia, seizures[kegg.jp]

Workup

  • Once the erythroderma is being managed, further workup for underlying pathology is imperative as the therapies vary depending on the underlying disease processes. B. Anticipated length of Stay.[cancertherapyadvisor.com]
  • Initial diagnostic workup is included in Table 2 . Figure 5 Algorithm for diagnosis of the erythrodermic infant.[dovepress.com]

Treatment

  • All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.[firstskinfoundation.org]
  • You can help by adding to it. ( May 2017 ) Treatment [ edit ] This section is empty.[en.wikipediam.org]
  • Hopefully, RAMBAs will be further developed as orphan drugs for treatment of moderate-to-severe LI. An additional possibility is that anti-inflammatory agents might prove effective in the treatment of ARCI.[docslide.net]
  • Treatment is highly dependent on underlying etiology but in cases where the underlying cause remains elusive empiric treatment can be considered with agents such as systemic corticosteroids, methotrexate, cyclosporine or mycophenolate mofetil.[cureus.com]
  • It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment.[beachfdeschips.ml]

Prognosis

  • Prognosis and Patient Counseling. Prognosis is good but depends somewhat on underlying disease processes. VI. Patient Safety and Quality Measures. A. Core Indicator Standards and Documentation. NA B.[cancertherapyadvisor.com]
  • Conflicting results have been published regarding the prognosis of patients with erythroderma. On follow-up, we found six deaths (5.8%) related to the underlying causes of erythroderma, all of them from progression of the CTCL.[ncbi.nlm.nih.gov]
  • In conclusion, erythroderma is a complex multifactorial dermatosis, the prognosis of which depends on the causative agent.[ncbi.nlm.nih.gov]
  • A severe burn-like erythema has been described in this group and is associated with a worse prognosis.[dovepress.com]

Etiology

  • In 16.6% of cases, etiology could not be ascertained. Clinico-histopathological correlation could be established in 73.3% of cases. Conclusion: Clinical features were identical irrespective of etiology.[ncbi.nlm.nih.gov]
  • Etiology is certainly of interest with erythroderma because the differential is extensive.[cureus.com]
  • Etiology According to the clinical, laboratory and histological findings, the patients were categorized into four groups [ Fig. 2 ]: Etiologies of erythroderma.[ncbi.nlm.nih.gov]
  • Elimination of infectious etiologies and the temporal association of new drug ingestion, and absence of hypotension would support this etiology.[cancertherapyadvisor.com]
  • […] are rarer etiologies, but important to recognize early to prevent harmful sequelae.[dovepress.com]

Epidemiology

  • Relevant External Links for ALOX12B Genetic Association Database (GAD) ALOX12B Human Genome Epidemiology (HuGE) Navigator ALOX12B Atlas of Genetics and Cytogenetics in Oncology and Haematology: ALOX12B No data available for Genatlas for ALOX12B Gene A[genecards.org]
  • It is considered a rare disease with few published studies concerning epidemiology [5] . Etiology is certainly of interest with erythroderma because the differential is extensive.[cureus.com]
  • Von Hebra first described generalized cutaneous inflammation in 1868 [ 3 ].The incidence of erythroderma is high in the Indian subcontinent although epidemiological data on a global scale are lacking.[ncbi.nlm.nih.gov]
  • Table 1 Epidemiological, clinical and laboratory features of the 103 patients with erythroderma according to etiology.[ncbi.nlm.nih.gov]
  • We studied 30 consecutive cases of erythroderma with respect to the epidemiological, clinical and histological data. Clinico-histological correlation was analyzed for etiology of erythroderma.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • The human 12R-LOX product, 12R-HETE, appears to be involved in the pathophysiology of psoriasis and other proliferative skin diseases ; a role in normal skin development is implied from the spatial and temporal expression patterns of the 12R-LOX in the[wikigenes.org]
  • .: Erythrodermic psoriasis: pathophysiology and current treatment perspectives . Psoriasis. 2016, 6:93-104. 10.2147/ptt.s101232 Tan GF, Kong YL, Tan AS, Tey HL: Causes and features of erythroderma . Ann Acad Med Singapore. 2014, 43:391-394.[cureus.com]
  • Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr . 2004;145(1):82–92. 45. Taïeb A, Labrèze C.[dovepress.com]

Prevention

  • Gene mutations impair the respective protein's function or structure within the epidermis, which prevents this outermost layer of skin from being an effective barrier before and after birth.[ghr.nlm.nih.gov]
  • Interleu-kin-1 alpha blockade prevents hyperkeratosis in an invitro model of lamellar ichthyosis. Hum Mol Genet2010;19:25942605.546 Pediatric Dermatology Vol. 31 No. 5 September/October 2014[documents.tips]
  • Topical ointment for preventing infection in preterm infants. Cochrane Database Syst Rev . 2004;(1):CD001150. 47. Gastmeier P, Groneberg K, Weist K, Rüden H.[dovepress.com]
  • Interleukin-1 a blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis. Hum. Mol. Genet. 19, 25942605 (2010). 18 Lane EB, McLean WH. Keratins and skin disorders. J.[docslide.net]

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