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]

[…] 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]

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]

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]

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]

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]

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]

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]

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]

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]

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]