Symptoma

Congenital Reticular Ichthyosiform Erythroderma

IWC

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]

Clinical features which were not always present in every patient were considered as minor criteria. [link.springer.com]

Acronym CRIE Synonyms Aarau disease Ichthyosis variegata Ichthyosis with confetti IWC Reticular erythrokeratoderma Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

  • 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]

  • Virilization

    […] syndrome Hereditary chronic pancreatitis Idiopathic bronchiectasis Juvenile myelomonocytic leukemia Leber congenital amaurosis Lethal arthrogryposis - anterior horn cell disease Lethal congenital contracture syndrome type 1 Male infertility with normal virilization [csbg.cnb.csic.es]

  • Eye Irritation

    Acute adverse effects of systemic retinoids include skin irritation, fragility and tenderness, mucocutanous toxicities (in particular cheilitis, epistaxis, eye irritation), hair loss, and laboratory abnormalities in blood cell counts, transaminases and [link.springer.com]

  • Ear Deformity

    Indeed, among 40 previously reported IWC patients, 7 showed both ear deformities and mammillae hypoplasia [ 17, 19 ], whereas 6 presented ear deformities [ 7, 8, 18 ] or mammillae hypoplasia [ 3, 12, 19 ] alone (Table 1 ). [link.springer.com]

  • Hypertrichosis

    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]

    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]

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

  • Hyperpigmentation

    An unusual postinflammatory hyperpigmentation, in which the lack of pigment deposition in the keratinocytes is due to a transfer defect in pathological cells, is hypothesized. [ncbi.nlm.nih.gov]

    Large melanin granules (arrows) contribute to the hyperpigmentation that often characterizes congenital reticular ichthyosiform erythroderma. [derm101.com]

    HSA: 6635 ] [KO: K11097 ] RPL21 [HSA: 6144 ] [KO: K02889 ] KRT 71 [HSA: 112802 ] [KO: K07605 ] H00796 Dermatopathia pigmentosa reticularis Dermatopathia pigmentosa reticularis is a rare disorder of pigmentation characterized by a triad of reticulate hyperpigmentation [kegg.jp]

    Unusual hyperpigmentation developing in congenital reticular ichthyosiform erythroderma (ichthyosis variegata). Br J Dermatol. 1998;139:893–6. CrossRef PubMed 10. Metze D, Raghunath M, Traupe H. [springermedizin.de]

    More frequently, hyperpigmentation within healthy skin spots has been described [ 19 ]. Hypohidrosis with temperature intolerance [ 18 ] and pruritus [ 6, 12, 17, 19 ] are likely due to the ichthyosiform skin condition. [link.springer.com]

  • Epistaxis

    Acute adverse effects of systemic retinoids include skin irritation, fragility and tenderness, mucocutanous toxicities (in particular cheilitis, epistaxis, eye irritation), hair loss, and laboratory abnormalities in blood cell counts, transaminases and [link.springer.com]

  • Nystagmus

    Additional but rarely reported signs of eye involvement are strabismus and nystagmus [ 19 ]. Finger length relative to palms may be decreased [ 19 ]. [link.springer.com]

  • Hyperreflexia

    However, peripheral hyperreflexia has been detected by neurologic examination in four patients [ 15 ] and psychomotor retardation has been reported in one case [ 17 ]. [link.springer.com]

  • Excitement

    These broad questions and the novelty of the mechanism by which the confetti spots arise generate excitement in the scientific community and explain, in part, why this particular gene discovery was thought to merit publication in high profile journals [firstskinfoundation.org]

  • Neglect

    Ichthyosis variegata: a new name for a neglected disease. J Am Acad Dermatol. 1997;36:500. CrossRef PubMed 3. Marghescu S, Anton-Lamprecht I, Rudolph PO, Kaste R. Congenital reticular ichthyosiform erythroderma. Hautarzt. 1984;35:522–9. PubMed 4. [springermedizin.de]

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]

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

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]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

The treatment with etretinate, started 2 years ago, further increased this process. Another peculiar clinical feature is a remarkable hypertrichosis. [ncbi.nlm.nih.gov]

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 IWC, as most other heritable ichthyoses, is a condition that requires significant attention in the neonatal period. [link.springer.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]

"Update on epidemiology, diagnosis, and disease course of atopic dermatitis". Seminars in Cutaneous Medicine and Surgery. Saunders, SP., Moran, T., Floudas, A., Wurlod, F., Kaszlikowska, A., Irvine, AD. [infantcentre.ie]

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]

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]

Epidemiology Frequency United States Ichthyosis vulgaris is the most common form and is an autosomal dominant trait with an incidence of 1 case per 300 population. [emedicine.medscape.com]

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]

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]

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

For example, keratins are generally thought to function mainly as structural proteins, preventing skin fragility associated with frictional trauma. [firstskinfoundation.org]

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

General principles of care for affected infants over 6 months of age include prevention of water loss, emolliating and softening of the stratum corneum. [clinicalgate.com]