Naxos syndrome

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Naxos disease
Other namesDiffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy
Naxos disease.jpg
Cutaneous phenotype of Naxos disease: woolly hair (A), palmar (B) and plantar (C) keratoses.

Naxos disease [1] (also known as "diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy" [1] or "diffuse palmoplantar keratoderma with woolly hair and arrhythmogenic right ventricular cardiomyopathy", first described on the island of Naxos by Dr. Nikos Protonotarios [1] ) is a cutaneous condition characterized by a palmoplantar keratoderma. [1] The prevalence of the syndrome is up to 1 in every 1000 people in the Greek islands. [2]

Contents

It has been associated with mutations in the genes encoding the proteins desmoplakin, plakoglobin, desmocollin-2, and SRC-interacting protein (SIP). [3] [4] Naxos disease has the same cutaneous phenotype as the Carvajal syndrome. [2]

Symptoms

Between 80 and 99% of those with Naxos disease will display some of the following symptoms:

See also

Related Research Articles

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A desmosome, also known as a macula adherens, is a cell structure specialized for cell-to-cell adhesion. A type of junctional complex, they are localized spot-like adhesions randomly arranged on the lateral sides of plasma membranes. Desmosomes are one of the stronger cell-to-cell adhesion types and are found in tissue that experience intense mechanical stress, such as cardiac muscle tissue, bladder tissue, gastrointestinal mucosa, and epithelia.

<span class="mw-page-title-main">Arrhythmogenic cardiomyopathy</span> Medical condition

Arrhythmogenic cardiomyopathy (ACM), arrhythmogenic right ventricular dysplasia (ARVD), or arrhythmogenic right ventricular cardiomyopathy (ARVC), most commonly is an inherited heart disease.

<span class="mw-page-title-main">Palmoplantar keratoderma</span> Medical condition

Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles.

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Keratoderma is a hornlike skin condition.

<span class="mw-page-title-main">Desmoplakin</span> Protein found in humans

Desmoplakin is a protein in humans that is encoded by the DSP gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contacts. In cardiac muscle, desmoplakin is localized to intercalated discs which mechanically couple cardiac cells to function in a coordinated syncytial structure. Mutations in desmoplakin have been shown to play a role in dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, where it may present with acute myocardial injury; striate palmoplantar keratoderma, Carvajal syndrome and paraneoplastic pemphigus.

<span class="mw-page-title-main">Plakoglobin</span> Mammalian protein found in Homo sapiens

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<span class="mw-page-title-main">Naegeli–Franceschetti–Jadassohn syndrome</span> Medical condition

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<span class="mw-page-title-main">Dermatopathia pigmentosa reticularis</span> Medical condition

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<span class="mw-page-title-main">Plakophilin-2</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">Peeling skin syndrome</span> Medical condition

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<span class="mw-page-title-main">Woolly hair autosomal recessive</span> Medical condition

Woolly hair autosomal recessive is a rare hereditary hair disorder characterized by sparse, short, curly hair.

Howel–Evans syndrome is an extremely rare condition involving thickening of the skin in the palms of the hands and the soles of the feet (hyperkeratosis). This familial disease is associated with a high lifetime risk of esophageal cancer. For this reason, it is sometimes known as tylosis with oesophageal cancer (TOC).

Woolly hair nevus is a congenital condition in which hair in a circumscribed area of the scalp is kinked or woolly.

Ulnar–mammary syndrome or Schinzel syndrome is a cutaneous condition characterized by nipple and breast hypoplasia or aplasia. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The main features of UMS include upper limb defects, underdevelopment of the apocrine and mammary glands, and various genital abnormalities. Other signs and symptoms may include hormonal deficiencies, delayed puberty, dental problems and obesity. People with UMS may have distinct facial features, including a wide face tapering to a prominent chin, and a broad nose.

<span class="mw-page-title-main">UV-sensitive syndrome</span> Medical condition

UV-sensitive syndrome is a cutaneous condition inherited in an autosomal recessive fashion, characterized by photosensitivity and solar lentigines. Recent research identified that mutations of the KIAA1530 (UVSSA) gene as cause for the development of UV-sensitive syndrome. Furthermore, this protein was identified as a new player in the Transcription-coupled repair (TC-NER).

<span class="mw-page-title-main">Skin fragility-woolly hair-palmoplantar keratoderma syndrome</span> Medical condition

Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a very rare genetic disorder which is characterized by fragile skin which shows itself as blisters and erosion due to trauma that wouldn't typically cause those type of lesions, woolly hair with alopecia, nail dysplasia, widespread or local palmoplantar keratoderma associated with painful fissuring. Only 2 cases from two families have been described in medical literature.

<span class="mw-page-title-main">Nikos Protonotarios</span> Greek researcher and cardiologist

Nikos Protonotarios was a Greek researcher and cardiologist who made fundamental contributions to the field of arrhythmogenic myocardial diseases.

References

  1. 1 2 3 4 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN   978-1-4160-2999-1.
  2. 1 2 Protonotarios, Nikos; Tsatsopoulou, Adalena (2006). "Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect". Orphanet Journal of Rare Diseases. 1 (1): 4. doi: 10.1186/1750-1172-1-4 . PMC   1435994 . PMID   16722579.
  3. McKoy G, Protonotarios N, Crosby A, et al. (June 2000). "Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)". Lancet. 355 (9221): 2119–24. doi:10.1016/S0140-6736(00)02379-5. PMID   10902626. S2CID   39821701.
  4. "Keratoderma with woolly hair". Genetics Home Reference. 17 April 2018. Retrieved 17 April 2018.
  5. "Naxos disease - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 9 March 2023.
  6. "Naxos disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 4 April 2021.