Besides presenting the case, we review the literature on this rare disorder of keratinization. [ncbi.nlm.nih.gov]

Keratohyaline granules are present along the rudimentary keratin skeleton at the periphery of the cytoplasm (arrowheads). [derm101.com]

It usually presents at birth as erythroderma (fig 1). [adc.bmj.com]

We present a unique case of coexisting glaucoma, ichthyosis and dwarfism that has not been previously described. METHODS: We present a case of NBCIE with glaucoma and dwarfism that presented to our outpatient department. [readbyqxmd.com]

• Lymphadenopathy

  It is associated with diffuse alopecia, lymphadenopathy, hepatosplenomegaly, recurrent infections, and failure to thrive.9 Omenn’s syndrome is an autosomal recessive form of severe combined immunodeficiency with particular features: leucocytosis with [adc.bmj.com]

  There is usually fever, associated elevated liver enzymes, renal insufficiency, cardiac abnormalities and lymphadenopathy. Hence, the term DRESS. Thyroid abnormalities, i.e. hypothyroidism may occur months after resolution. [cancertherapyadvisor.com]

  Most affected infants do not have symptoms immediately at birth, but develop typical findings by 3–6 months of age.18 Infants with Omenn syndrome, a severe variant of SCID, will additionally show hepatosplenomegaly, lymphadenopathy, leukocytosis, and [dovepress.com]

  […] very common to EP and can range from mild pitting to severe onychodystrophy, more commonly involving the fingernails than the toenails.2,8,10 In addition, patients can have systemic symptoms of fever, tachycardia, fatigue, malaise, chills, dehydration, lymphadenopathy [ncbi.nlm.nih.gov]

• Hodgkin Lymphoma

  People with ichthyosis may have a systemic disease, such as: Hodgkin lymphoma Underactive thyroid Sarcoidosis Cancer ( ichthyosis may be a cutaneous marker of internal malignancy ) HIV infection Ichthyosis may be provoked by certain medications: Nicotinic [dermnetnz.org]

  Specific skin lesions occurring in a patient with Hodgkin's lymphoma. Australas J Dermatol. 1999 Feb. 40(1):41-3. [Medline]. Patel N, Spencer LA, English JC 3rd, Zirwas MJ. Acquired ichthyosis. J Am Acad Dermatol. 2006 Oct. 55(4):647-56. [Medline]. [emedicine.medscape.com]

   Malignancy : lymphoma specially Hodgkin’s lymphoma; also occurs in NHL, mycosis fungoids, multiple myeloma. [slideshare.net]

• Anemia

  Laboratory and histological findings, although nonspecific, were in line with those of erythroderma, such as mild anemia, leukocytosis with eosinophilia, high levels of CRP, and hypoalbuminemia [6, 18]. [ncbi.nlm.nih.gov]

  As the full complement of potential laboratory testing is extensive, erythrodermic neonates are at risk of iatrogenic anemia. [dovepress.com]

• Constitutional Symptom

  Patients with erythroderma complain of constitutional symptoms such as fever, chills and even rigors, and pruritus. Diffuse alopecia, keratoderma, nail dystrophy and weight loss are more common in the chronic state. [cancertherapyadvisor.com]

• Failure to Thrive

  […] to thrive, with a mortality of 30–40% during this period. [adc.bmj.com]

  GATA3 mutations (which traditionally associates with hypoparathyroidism and deafness syndomre – HDR -syndrome) have been identified in a patient with congenital ichthyosis, hypoparathyroidism, and failure to thrive who later developed sensorineural hearing [bredagenetics.com]

  Omenn’s syndrome and related combined immunodeficiency syndromes: diagnostic considerations in infants with persistent erythroderma and failure to thrive. J Am Acad Dermatol. 1991;25(2):442–446. 20. [dovepress.com]

  Extracutaneous features The failure to thrive is often profound, requiring hospitalization for nutritional support and correction of the hypernatremic dehydration that may be associated. [plasticsurgerykey.com]

• Vomiting

  Accompanying symptoms include diarrhoea, vomiting, abdominal cramps, wheezing, raised temperature, pruritus, flushing, and hypotension. Darier’s sign—a wheal and flare reaction on rubbing the skin—is positive. [adc.bmj.com]

• Hyperkeratosis

  SNP ID Clin Chr 17 pos Sequence Context AA Info Type rs267607383 untested, Epidermolytic hyperkeratosis (EHK) [MIM:113800] 40,819,544(-) AACCT(A/G)CCGCA intron-variant, reference, missense rs57784225 Pathogenic, Epidermolytic hyperkeratosis (EHK) [MIM [genecards.org]

  Most common symptoms of EPIDERMOLYTIC HYPERKERATOSIS; EHK Autosomal recessive inheritance Autosomal dominant inheritance Pica Erythema Hyperkeratosis More info about EPIDERMOLYTIC HYPERKERATOSIS; EHK SOURCES: OMIM ORPHANET ICD10 SCTID ICHTHYOSIS HYSTRIX [mendelian.co]

  Generalized epidermolytic hyperkeratosis is a genetic disorder, while localized epidermolytic hyperkeratosis occurs sporadically as a result of mosaicism. Read More Download full-text PDF Source Epidermolytic Hyperkeratosis--case report. [pubfacts.com]

  […] as cyclic ichthyosis with epidermolytic hyperkeratosis (CIEHK), is a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. [kegg.jp]

  Joint contractions of the fingers, caused by marked hyperkeratosis, worsen mobility of the hands [ 19 ]. [link.springer.com]

• Skin Disease

  Rare skin disease Classification (ICD10): (no data available) Epidemiological data: Class of prevalence: Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant External references: 1 OMIM reference - No MeSH references [csbg.cnb.csic.es]

  "The skin disease that cures itself". Nature. doi : 10.1038/news.2010.434. ^ a b Kretzschmar, Kai; Watt, Fiona M. (2012). "Lineage Tracing". Cell. 148 (1–2): 33–45. doi : 10.1016/j.cell.2012.01.002. PMID 22265400. ^ Choate, K. [en.wikipedia.org]

  Elsevier Health Sciences, ٣٠‏/١٠‏/٢٠٠٩ - 1052 من الصفحات Thoroughly revised and up-dated, this comprehensive, authoritative reference will help both the experienced and novice practitioner diagnose skin diseases and disorders more accurately and effectively [books.google.com]

• Erythema

  During childhood the diseased integument improves slowly, the result being the appearance of small zones of apparently normal skin surrounded by erythema topped by scales, and in a reticular pattern as shown here. [derm101.com]

  The erythema is replaced with thick ... [kegg.jp]

  The clinical phenotype of EHK is characterized by erythema and widespread formation of epidermal blisters developing at birth. [mendelian.co]

  When acute, the patient lay look like a toxic erythema or even like an intense sunburn. [cancertherapyadvisor.com]

• Keratosis

  PALMOPLANTARIS STRIATA III; PPKS3 Alternate names KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 Is also known as striate palmoplantar keratoderma iii;sppk3, keratoderma, palmoplantar, striate form iii;kpps3 Most common symptoms of KERATOSIS PALMOPLANTARIS [mendelian.co]

  Richieri Costa-Pereira syndrome Senior-Loken syndrome Well-differentiated liposarcoma Aneurysm - osteoarthritis syndrome Familial thoracic aortic aneurysm and aortic dissection Epidermolytic palmoplantar keratoderma Ichthyosis hystrix of Curth-Macklin Keratosis [csbg.cnb.csic.es]

  p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split handfoot malformation suggest a genotype-phenotype correlation. ‎ 151 ページ - Follicular keratosis and verrucous lesions on the extensor surfaces of the arms and legs and on [books.google.com]

  It may also represent an incidental finding in seborrheic keratosis, actinic keratosis, in situ squamous cell carcinoma, invasive squamous cell carcinoma, melanocytic nevi, and epidermal and pilar cysts. 23 Epidermolytic hyperkeratosis may also be seen [basicmedicalkey.com]

• Hypertrichosis

  They have hypertrichosis. B. [emedicalhub.com]

  Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of limbs Clubbing Hereditary palmoplantar keratoderma Abnormality of the immune system Erythroderma Abnormality of the integument Erythroderma Hereditary palmoplantar keratoderma Hypertrichosis [familydiagnosis.com]

  Another peculiar clinical feature is a remarkable hypertrichosis. At the ultrastructural level, perinuclear deposits of filamentous material in vacuolized keratinocytes of the upper epidermis, pathognomonic for CRIE, were demonstrated. [ncbi.nlm.nih.gov]

  Hypertrichosis is a frequent and characteristic IWC sign [ 10, 11, 14, 17, 19 ]. [link.springer.com]

  Affiliated tissues include skin, and related phenotypes are hypertrichosis and clubbing Genetics Home Reference : 26 Ichthyosis with confetti is a disorder of the skin. [malacards.org]

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]

• Streptococcus Pneumoniae

  RT "The Streptococcus pneumoniae adhesin PsrP binds to keratin 10 on lung RT cells."; RL Mol. Microbiol. 73:663-679(2009). RN [15] RP INVOLVEMENT IN CRIE. [genome.jp]

Many chapters have been completely revised to reflect the latest treatment recommendations, procedures and therapeutic guidelines. [books.google.com]

Controlling symptoms with emollients is the goal of treatment for ichthyosis since it has no cure. [casereports.bmj.com]

As a result, Psoriasis Area and Severity Index score improved from 44.0 on admission to 26.4 after initiating apremilast treatment. [ncbi.nlm.nih.gov]

Effect of topical tazarotene in the treatment of congenital ichthyoses. Br J Dermatol. 1999;141:642–6. CrossRef PubMed 38. Craiglow BG, Choate KA, Milstone LM. Topical tazarotene for the treatment of ectropion in ichthyosis. [springermedizin.de]

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]

In conclusion, erythroderma is a complex multifactorial dermatosis, the prognosis of which depends on the causative agent. [ncbi.nlm.nih.gov]

The course, prognosis, and management strategies also vary depending on the cause of erythroderma; hence, an accurate diagnosis is essential in minimizing associated morbidity and mortality... [readbyqxmd.com]

Prognosis The dryness of the eyes can be treated with artificial tears, ointments, bandage contact lenses, punctal occlusion, and possibly surgery, depending on the presence of abnormal lid closure or limbal stem cell deficiency. [emedicine.medscape.com]

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]

Etiology and pathogenesis X-linked ichthyosis results from mutations of the STS gene encoding steroid sulfatase (arylsulfatase C), particularly deletions (90% of patients). [clinicalgate.com]

The exact etiology of the disease is obscure but it is said to he a hereditary disease, with the possible mode of trans- mission through autosomal recessive genes. [docslide.com.br]

[…] palmoplantaris striata Superficial epidermolytic ichthyosis Synonym(s): - CRIE - IWC - Ichthyosis variegata - Ichthyosis with confetti Classification (Orphanet): - Rare genetic disease - Rare skin disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

Juvenile localized scleroderma: clinical and epidemiological features in 750 children. An international study. Rheumatol. 2006;45:614-20. [ Links ] 21 Akiyama M. Severe congenital ichthyosis of the neonate. Int J Dermatol. 1993;37:722-8. [ Links ] [scielo.br]

"Update on epidemiology, diagnosis, and disease course of atopic dermatitis". Seminars in Cutaneous Medicine and Surgery. https://www.ncbi.nlm.nih.gov/pubmed/27525380 Saunders, SP., Moran, T., Floudas, A., Wurlod, F., Kaszlikowska, A., Irvine, AD. [infantcentre.ie]

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]

Further studies may be warranted to explore a possible pathophysiologic relationship. [ncbi.nlm.nih.gov]

Pathophysiology Ichthyosis vulgaris is characterized by onset in early childhood, usually between age 3 and 12 months, with fine scales and varying degrees of dryness of the skin. [emedicine.medscape.com]

Read More Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment. Am J Clin Dermatol 2018 Feb;19(1):51-66 Department of Medical Sciences, Dermatology, Uppsala University, Uppsala, Sweden. [pubfacts.com]

Further pathophysiological study should be performed to explore this hypothesis. One important additional point that needs to be discussed is the impact of sun avoidance on vitD level in ichthyosis patients. [ojrd.biomedcentral.com]

SUMMARY: The expanding phenotype and genotype of the ichthyoses facilitates accurate clinical diagnosis and permits a deeper knowledge of the epidermal pathophysiology. [expertscape.com]

The principles of treatment are moistening the skin, prevention of dehydration, and use of keratolytic agents. [readbyqxmd.com]

Bland emollients such as petrolatum-based products should be applied several times a day, especially after bathing, to prevent drying. [link.springer.com]

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]

Appropriate Prophylaxis and Other Measures to Prevent Readmission. [cancertherapyadvisor.com]

CDC [CN] Centers for Disease Control and Prevention" [CN] DP Publication Date The date that the article was published. 2007/1/31[DP] 2001/3:2001/10[DP] 2009[DP] DTRE Date Revised The date a change was last made to a record as a result of NLM's individual [biomedsearch.com]