WordNet

present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
a skin condition marked by an overgrowth of layers of horny skin

PrepTutorEJDIC

(病気・身体的欠陥など)生まれつきの,先天的な

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1. 心疾患関連する遺伝性症候群 inherited syndromes associated with cardiac disease
2. 不整脈原性右室心筋症：解剖学、組織学、病因、および遺伝学 arrhythmogenic right ventricular cardiomyopathy anatomy histology pathogenesis and genetics
3. 不整脈原性右室心筋症の臨床症状および診断 clinical manifestations and diagnosis of arrhythmogenic right ventricular cardiomyopathy
4. 小児におけるQRS幅の広い頻脈の原因 causes of wide qrs complex tachycardia in children
5. Arrhythmogenic right ventricular cardiomyopathy: Treatment and prognosis

English Journal

Arrhythmogenic cardiomyopathy.

Pilichou K1, Thiene G1, Bauce B1, Rigato I1, Lazzarini E1, Migliore F1, Perazzolo Marra M1, Rizzo S1, Zorzi A1, Daliento L1, Corrado D1, Basso C2.
Orphanet journal of rare diseases.Orphanet J Rare Dis.2016 Apr 2;11:33. doi: 10.1186/s13023-016-0407-1.
Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias and pathologically by an acquired and progressive dystrophy of the ventricular myocardium with fibro-fatty replacement. Due to an estimated prevalence of 1:2000-1:5000, A
PMID 27038780

Connexin channels in congenital skin disorders.

Lilly E1, Sellitto C2, Milstone LM1, White TW3.
Seminars in cell & developmental biology.Semin Cell Dev Biol.2016 Feb;50:4-12. doi: 10.1016/j.semcdb.2015.11.018. Epub 2016 Jan 13.
Gap junctions and hemichannels comprised of connexins influence epidermal proliferation and differentiation. Significant advances in our understanding of the functional role of connexins in the skin have been made by studying the diseases caused by connexin mutations. Eleven clinically defined cutan
PMID 26775130

Ichthyosis with confetti: clinics, molecular genetics and management.

Guerra L1, Diociaiuti A2, El Hachem M3, Castiglia D4, Zambruno G5.
Orphanet journal of rare diseases.Orphanet J Rare Dis.2015 Sep 17;10:115. doi: 10.1186/s13023-015-0336-4.
Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma. It manifests at birth with generalized ichthyosiform erythroderma or with a collodion baby picture. The erythrodermic and ichthyotic ph
PMID 26381864

Related Links

Palmoplantar keratoderma | Genetic and Rare Diseases ...

Palmoplantar keratoderma (PPK) is a group of skin conditions characterized by thickening of the skin on the palms of the hands and soles of the feet. PPK can also be a feature of various underlying syndromes. [1] In rare forms of PPK, organs other than the skin may also be affected.

The hereditary palmoplantar keratoses: an updated review and ...

The palmoplantar keratoses (PPKs) comprise a heterogeneous group of disorders of keratinization, which can be subdivided into hereditary and acquired forms. Many authors have attempted to classify the hereditary forms,1–5and most classifications have been based on the morphology, distribution, associated symptoms and mode of inheritance.

Congenital palmoplantar keratosis (Concept Id: C1855633)

Haim-Munk syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, severe periodonitis, arachnodactyly, acroosteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers (summary by Hart et al., 2000). See: Condition Record