Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

HOPP SYNDROME, HOPP syndrome, HYPOTRICHOSIS-OSTEOLYSIS-PERIODONTITIS-PALMOPLANTAR KERATODERMA SYNDROME

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Introduction

An extremely rare ectodermal dysplasia syndrome with characteristics of hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.

100 Clinical Results associated with Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome

100 Translational Medicine associated with Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome

0 Patents (Medical) associated with Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome

Literatures (Medical) associated with Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome

01 Sep 2010·Muscle & NerveQ3 · MEDICINE

I_Na and I_Kir are reduced in Type 1 hypokalemic and thyrotoxic periodic paralysis

Q3 · MEDICINE

Article

Author: Araya Puwanant ; Robert L. Ruff

AbstractWe evaluated voltage‐gated Na+ (INa) and inward rectifier K+ (IKir) currents and Na+ conductance (GNa) in patients with Type 1 hypokalemic (HOPP) and thyrotoxic periodic paralysis (TPP). We studied intercostal muscle fibers from five subjects with HOPP and one with TPP. TPP was studied when the patient was thyrotoxic (T‐toxic) and euthyroid. We measured: (1) IKir, (2) action potential thresholds, (3) INa, (4) GNa, (5) intracellular [Ca2+], and (6) histochemical fiber type. HOPP fibers had lower INa, GNa, and IKir and increased action potential thresholds. Paralytic attack frequency correlated with the action potential threshold, GNa and INa, but not with IKir. GNa, INa, and [Ca2+] varied with fiber type. HOPP fibers had increased [Ca2+]. The subject with TPP had values for GNa, INa, action potential threshold, IKir, and [Ca2+] that were similar to HOPP when T‐toxic and to controls when euthyroid. HOPP T‐toxic TPP fibers had altered GNa, INa, and IKir associated with elevation in [Ca2+]. Muscle Nerve, 2010

01 Jan 2007·Journal of Korean Medical ScienceQ4 · MEDICINE

The Genotype and Clinical Phenotype of Korean Patients with Familial Hypokalemic Periodic Paralysis

Q4 · MEDICINE

ArticleOA

Author: Lee, Soon Ju ; Lee, Byung Churl ; Kim, Man-Ho ; Kim, June-Bum ; Kim, Dae-Joong

Familial hypokalemic periodic paralysis (HOPP) is a rare autosomal-dominant disease characterized by reversible attacks of muscle weakness occurring with episodic hypokalemia. Mutations in the skeletal muscle calcium (CACNA1S) and sodium channel (SCN4A) genes have been reported to be responsible for familial HOPP. Fifty-one HOPP patients from 20 Korean families were studied to determine the relative frequency of the known mutations and to specify the clinical features associated with the identified mutations. DNA analysis identified known mutations in 12 families: 9 (75%) were linked to the CACNA1S gene and 3 (25%) to the SCN4A gene. The Arg528His mutation in the CACNA1S gene was found to be predominant in these 12 families. Additionally, we have detected one novel silent exonic mutation (1950C>T) in the SCN4A gene. As for a SCN4A Arg669His mutation, incomplete penetrance in a woman was observed. Characteristic clinical features were observed both in patients with and without mutations. This study presents comprehensive data on the genotype and phenotype of Korean families with HOPP.

01 Jan 2005·Journal of Korean Medical ScienceQ4 · MEDICINE

A Korean Family of Hypokalemic Periodic Paralysis with Mutation in a Voltage-gated Calcium Channel (R1239G)

Q4 · MEDICINE

ArticleOA

Author: Kim, June-Bum ; Lee, Kyung-Yil ; Hur, Jae-Kyun

Hypokalemic periodic paralysis (HOPP) is a rare disease characterized by reversible attacks of muscle weakness accompanied by episodic hypokalemia. Recent molecular work has revealed that the majority of familial HOPP is due to mutations in a skeletal muscle voltage-dependent calcium-channel: the dihydropyridine receptor. We report a 13-yr old boy with HOPP from a family in which 6 members are affected in three generations. Genetic examination identified a nucleotide 3705 C to G mutation in exon 30 of the calcium channel gene, CACNA1S. This mutation predicts a codon change from arginine to glycine at the amino acid position #1239 (R1239G). Among the three known mutations of the CACNA1S gene, the R1239G mutation was rarely reported. This boy and the other family members who did not respond to acetazolamide, showed a marked improvement of the paralytic symptoms after spironolactone treatment.

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Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome

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