Congenital ichthyosiform erythroderma (CIE) belongs to a spectrum of clinical entities belonging to autosomal recessive congenital ichthyosis, with shared features of generalized scaling and erythema. CIE is considered to be a severe subtype, distinguished by a neonatal onset of palmoplantar keratoderma, painful fissures, contractures of the digits, an eyebrow loss, and ectropion. The diagnosis is made by observing the main manifestations, whereas skin biopsies and genetic studies can be used for confirmation.
Autosomal recessive congenital ichthyosis (ARCI) is a term encompassing a group of rare disorders who share the same pathophysiological basis of the disease - impaired keratinization of the skin due to various hereditary mutations    . Specifically, the keratinocytes are unable to create crucial lipid molecules in the stratum corneum that are involved in protection from the external environment . Depending on the severity of the disorder, a few distinct phenotypes exist - lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE), and harlequin ichthyosis regarded as the most dangerous and life-threatening form of ARCI   . Congenital ichthyosiform erythroderma is mainly regarded as a severe form of ARCI, with first manifestations presenting as early as at birth - palmoplantar keratoderma, generalized redness of the skin, and diffuse white scaling   . Due to the loss of skin integrity, fissures and digital contractures, particularly in severe cases, are quite common   . In addition to these findings, many patients develop various other manifestations such as ectropion and loss of eyebrows. An abnormal lip formation (eclabium) have also been described  .
Entire Body System
The diagnosis of congenital ichthyosiform erythroderma and other forms of ARCI rests on the ability of the physician to recognize the main cutaneous manifestations in the neonatal period. For this reason, the physical examination is the pivotal step in confirming any type of ARCI. Because CIE develops through an autosomal recessive pattern of inheritance, a detailed family history, which could potentially reveal similar findings in close relatives, is equally important.
Although clinical findings are considered to be sufficient to make the diagnosis of congenital ichthyosiform erythroderma, additional studies that may solidify suspicion are a histological examination of the skin and genetic studies. Main findings on skin biopsy samples include hyperkeratosis, increased mitotic activity, an abundance of blood vessels in the dermis, and a lymphocytic infiltrate . The presence of mutations in any of the 12 genes that have been identified in many patients (most frequent genes involved are ABCA12, TGM1, ALOX12B, NIPAL4) may serve as a confirmation . However, up to 15% of families in whom this condition is present do not possess any of the genetic mutations previously described in the literature . Hence, clinical criteria remain the cornerstone in recognizing CIE.
This unique finding indicates that a certain subgroup of patients with this generalized ectodermal disturbance may benefit from treatment with the aromatic retinoids. [ncbi.nlm.nih.gov]
(Case report and overview of oral retinoid treatment for ichthyosis with remarkable relief of hypohidrosis.) Oji, V, Traupe, H. “Ichthyosis. Clinical manifestations and practical treatment options”. Am J Clin Dermatol. vol. 10. 2009. pp. 351-64. [dermatologyadvisor.com]
[…] severe ectropion, and a uniformly severe, unremitting course. 11 patients displayed clinical features of nonbullous congenital ichthyosiform erythroderma (CIE) characterized by fine white scales, prominent erythroderma, a milder course, and a variable prognosis [ncbi.nlm.nih.gov]
[…] body diagrams and clinical photographs of each syndrome Bulleted text summarizing the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosis [books.google.com]
Distinguishing between these disorders on clinical grounds can be useful for clarifying prognosis and management and, to some extent, to choose which genes to analyze. [genedx.com]
Etiology CIE is inherited in an autosomal recessive fashion. Six genes have been isolated, TGM1 (the gene for transglutaminase-1), ABCA12, NIPAL4 (also known as ICHTHYIN), CYP4F22, ALOX12B, and ALOXE3. [dermatologyadvisor.com]
The fine scaling which was present in the face, neck and back was an important clue which supported as an ichthyotic etiology over staphylococcal scalded skin syndrome. [medresearch.in]
Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol. 2003;4:81-95. Schmuth M, Yosipovich G, Williams ML, et al. Pathogenesis of the Permeability Barrier Abnormality in Epidermolytic Hyperkeratosis. J Inves Derm. 2001;17(4):837-847. [rarediseases.org]
(Etiology) The information and instructions provided by 3 genes are mainly responsible for the development of the epidermis. [dovemed.com]
Autosomal recessive congenital ichthyosis (ARCI) is a term encompassing a group of rare disorders who share the same pathophysiological basis of the disease - impaired keratinization of the skin due to various hereditary mutations. [symptoma.com]
[…] epidermolytic leukoplakia Terminology Other names: Epidermolytic ichthyosis Bullous congenital ichthyosiform erythroderma Bullous ichthysosis Bullous erythroderma ichthyosiformis congenita of Brocq Disorder of cornification type 3 Vorner's syndrome Pathophysiology [pathologyoutlines.com]
Pathophysiology These genetic defects cause abnormalities in the quantity or quality of intercellular lamellar membranes, with resultant transepidermal water loss, epidermal hyperproliferation, and inflammation. [dermatologyadvisor.com]
Therapy had to be maintained to prevent recurrence of symptoms. [ncbi.nlm.nih.gov]
Overheating – Severe scaling of the skin prevents normal sweating so hot weather or vigorous exercise can cause problems. [ichthyosis.org.uk]
Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]
Treat your inpatient and ambulatory patients more effectively with the absolute latest on new topics such as quality improvement and patient care safety *school violence and bullying * preventive measures * vitamin deficiencies * adolescent rape * effect [books.google.com]
- Richard G. Autosomal Recessive Congenital Ichthyosis. 2001 Jan 10 [Updated 2017 May 18]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
- Fischer J, Faure A, Bouadjar B, et al. Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. Am J Hum Genet. 2000;66:904–913.
- Wang T, Xu C, Zhou X, et al. Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction. Slominski A, ed.Int J Mol Sci. 2015;16(9):21791-21801.
- Elias PM, Williams ML, Holleran WM, Jiang YJ, Schmuth M. Pathogenesis of permeability barrier abnormalities in the ichthyoses: Inherited disorders of lipid metabolism. J. Lipid Res. 2008;49:697–714.
- Pigg MH1, Bygum A, Gånemo A, et al. Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. Acta Derm Venereol. 2016;96(7):932-937.
- Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Autosomal recessive congenital ichthyosis. Actas Dermosifiliogr. 2013;104(4):270-284.