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]

• Developmental Delay

  Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics. 2006 Jun. 117(6):2304-16. [Medline]. Pietrusinski M, Stanczyk-Przyluska A, Chlebna-Sokól D, Borkowska E, Kaluzewski B, Borowiec M. [emedicine.medscape.com]

• Collapse

  In both IWC subtypes the frameshift peptide is implicated in the dominant negative effect that disrupts the interactions of K1/K10 tails, leading to the collapse of IF network and mislocalization of the mutant proteins to the nucleus [ 13, 16 ]. [link.springer.com]

• Rhinitis

  Staphylococcal scalded skin syndrome (Ritter’s disease, pemphigus neonatorum) is caused by the circulation of exfoliative toxins (ETA, ETB) produced by staphylococci in focal infections such as conjunctivitis, omphalitis, or rhinitis. [adc.bmj.com]

  Extracutaneous features There is an association in some cases with atopic asthma and rhinitis in later life, and ichthyosis vulgaris is associated with a strong risk for atopic dermatitis. [plasticsurgerykey.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]

• 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]

• Pruritus

  We report a case of a two-year-old boy presented with intractable pruritus, scaling, dry skin and generalized eczematous lesions resistant to atopic dermatitis therapy. [readbyqxmd.com]

  During the summer, they also avoid the warmth of the sun because it increases cutaneous pain and pruritus. [ojrd.biomedcentral.com]

  Hypohidrosis with temperature intolerance [ 18 ] and pruritus [ 6, 12, 17, 19 ] are likely due to the ichthyosiform skin condition. Hypertrichosis is a frequent and characteristic IWC sign [ 10, 11, 14, 17, 19 ]. [link.springer.com]

  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]

  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]

• Skin Rash

  Two weeks before hospitalization, he received a five day oral prednisone taper prescribed by a family physician for skin rash. Following this, he developed a confluent, erythematous, scaling rash covering >50% BSA. [ncbi.nlm.nih.gov]

  Within one to two days they develop a generalised macular and subsequently erythrodermic rash, which is accompanied by increased skin tenderness. [adc.bmj.com]

• Cryptorchidism

  Deletions of the STS gene have systemic effects, such as corneal opacities, cryptorchidism, and failed progression during labor. Deletions to flank regions of the STS gene have been linked with mental retardation. [emedicine.medscape.com]

  […] findings Extracutaneous findings Gene defect(s) Protein(s) Class of protein/ function X-linked ichthyosis syndromes RXLI (recessive X-linked ichthyosis) syndromic presentation 308100 XR Large, dark scales Sparing of body folds Prolongation of labor Cryptorchidism [plasticsurgerykey.com]

   Cryptorchidism, testicular carcinoma. 44. X-linked Ichthyosis 45. Histopathology of Icthyosis vulgaris 46. Histopathology of I .Vulgaris 47. [slideshare.net]

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]

• Lymphocytosis

  […] maternal lymphocytes during intrauterine11 or postnatal (exchange) transfusions.12 The clinical manifestations of a graft versus host reaction include fever, a morbilliform rash, which in severe reactions may evolve into an erythroderma, eosinophilia, lymphocytosis [adc.bmj.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]