Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3

Tariq, Muhammad; Khan, M. Fahim; Ahmad, Wasim

doi:10.1007/s00439-009-0640-y

Cited by 7 publications

(13 citation statements)

References 29 publications

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“…Among these, an ED demonstrating congenital hair abnormalities associated with cutaneous syndactyly is a very rare form and has been reported in only a few cases. Such clinical features have been observed in patients with ectodermal‐dysplasia‐syndactyly‐syndrome (EDSS1 OMIM 613573) (Brancati et al., ; Jelani et al., ; Fortugno et al., ) and EDSS2 (OMIM 613576) (Tariq et al., ). Patients with both EDSS1 and EDSS2 showed a combination of features including sparse to absent scalp hair and eyebrows and eyelashes, hypoplastic nails, tooth enamel hypoplasia, conical shaped teeth, palmoplantar keratoderma and partial cutaneous syndactyly.…”

Section: Introductionmentioning

confidence: 87%

A Novel Homozygous Nonsense Mutation in the PVRL4 Gene and Expansion of Clinical Spectrum of EDSS1

Raza

Dar

Shah

et al. 2014

Annals of Human Genetics

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SummaryEctodermal dysplasias (EDs) belong to a group of genetic diseases which result from alterations in ectoderm-derived appendages including hair, nail, teeth and sweat glands. Ectodermal dysplasia syndactyly syndrome (EDSS1) is one of the rare forms of ED caused by mutations in nectin-4, encoded by the PVRL4 gene. The present study described clinical investigation of the EDSS1 identified in a large consanguineous family. Furthermore, DNA sequence analysis revealed a novel homozygous nonsense mutation (181C>T, p.Asp61 * ) in the PVRL4 gene.

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Section: Introductionmentioning

confidence: 87%

A Novel Homozygous Nonsense Mutation in the PVRL4 Gene and Expansion of Clinical Spectrum of EDSS1

Raza

Dar

Shah

et al. 2014

Annals of Human Genetics

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“…12 iskelet ve kardiyak anomalileri ve sindaktilinin eşlik ettiği ED vakaları bildirmişlerdir. Sindaktilinin eşlik ettiği diğer bir ED formu okülodentoosseöz displazi olup otozomal dominant veya otozomal resesif geçişli olabilir 2,7 . Bu form bilateral mikroftalmi, anormal küçük burun, hipotrikoz, diş anomalileri, 5. parmakta kampilodaktili, 4 ve 5. parmaklarda sindaktili, ayak parmaklarında kayıp ile karakterizedir 2,7 .…”

Section: Discussionunclassified

“…Tariq ve ark. 7 2009 yılında ED sendrom bulgularından hipohidroz, hipoplastik tırnak, diş hipoplazisi, hiperhidroz, palmoplantar keratoderma ve bilateral parsiyel kutanöz sindaktili bulunan Pakistanlı bir aile tanımlamıştır. Bu bulguların bazıları daha önce ED-sindaktili sendromu (Boudghene-Stambouli ve Merad-Boudia'nın sunduğu) ve Baisch's sendromunda tanımlanmıştır.…”

Section: Discussionunclassified

“…Bu bulguların bazıları daha önce ED-sindaktili sendromu (Boudghene-Stambouli ve Merad-Boudia'nın sunduğu) ve Baisch's sendromunda tanımlanmıştır. Fakat ince vücut kılları, sarımsı el ve ayak tırnakları, plantar keratoderma, hiperhidroz, kardiomegali, foliküler hiperkeratoz, sivri burun, ince üst dudak ve geniş kulak kepçesi gibi bazı bulguların ED-sindaktili sendromu ve Baisch's sendromunda bildirilmemesinden dolayı bu klinik tablo ektodermal displazi-kutanöz sindaktili (EDCS) şeklinde tanımlanmıştır 7 . Ektrodaktili Ektodermal displazi-klefting sendromu (EEC sendromu); ektodermal displazi bulguları yanında, yarık dudak ve/veya yarık damak, seyrek saçlı deri, malforme kepçe kulak, el ve ayak parmaklarında kısmi veya tam olan sindaktili ile seyreden, otozomal dominant geçişli bir ED sendromudur.…”

Section: Discussionunclassified

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Ektrodaktili Ektodermal Displazi-Klefting Sendromlu Ailesel Üç Olgu

Dertlioğlu¹,

Çiçek²,

Özardalı³

2012

Turkderm

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ÖzetAnne-baba arasında akraba evliliği öyküsü olan dört çocuklu bir aile 10 yaş, altı yaş ve üç aylık kız çocuklarında saçlarda uzamama, tüm vücut kıllarında seyrelme ve parmaklarda şekil bozukluğu şikayeti ile polikliniğimize başvurdu. Hastaların dermatolojik muayenesinde saçlar, kaşlar ve ekstremitelerde kıllarda seyrelme, tırnaklarda subungual hiperkeratoz, palmoplantar hiperkeratoz, deride yaygın terleme kaybı ve kuruluk, dişlerde konik görünüm ve hipodonti saptandı. Her üç kardeşin de ellerinde 3-4. parmaklarda, ayaklarında 2-3-4. parmaklarda proksimalde yapışıklık gözlendi. Hastalardan alınan deri biyopsi materyallerinin histopatolojik incelenmesinde kıl folikülleri ve sebase glandlarda sayıca azalma ve boyutlarda küçülme saptandı. Klinik ve histopatolojik değerlendirme sonucunda Ektrodaktili ektodermal displazi-klefting sendromu tanısı konulan bu ailesel olguları nadir gözlenmesi nedeniyle sunuyoruz. (Türk derm 2012; 46: 47-9) Anah tar Ke li me ler: Ektrodaktili ektodermal displazi-klefting sendromu, ektodermal displazi-kutanöz sindaktili sendromu, ektodermal displazi Sum maryA family of four children where mother and father had history of consanguineous marriage presented at our clinic due to lack of hair growth, thinning of all body hair and finger deformities in their three daughters aged 10 years, six years and three months. Dermatological examination of the cases showed thinning of the hair on the scalp, eyebrows, and extremities, subungual hyperkeratosis in nails, palmoplantar hyperkeratosis, cutaneous xerosis and loss of sweating, conical appearance and hypodontia in the teeth. All three siblings were seen to have the 3rd and 4th digits on the hand and the 2nd, 3rd and 4th digits on the feet to be proximally conjoined. Histopathologic examination of the cutaneous biopsy materials taken from the patients revealed a decrease in the number and size of hair follicles and sebaceous glands. We present these familial cases who were diagnosed with Ectrodactyly-ectodermal dysplasia-clefting syndrome as a result of clinical and histopathologic evaluation due to their rarity. (Turk derm 2012; 46: 47-9

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“…9). The combination of multiple features of ectodermal developmental failure, resulting in primary nail dystrophy, reduced sweat glands, hypo/athelia (rudimentary or absent nipple and areola), hypotrichosis and teeth anomalies, defines ectodermal dysplasia with PPK [175][176][177][178][179][180][181][182][183][184][185][186][187][188][189] (Table 11). Finally, there is a restricted number of multisystem genetic disorders accounting PPK as an additional and often clinically minor feature within a broader dysfunction and extending from a hereditary cancer predisposition syndrome (Fig.…”

Section: Palmoplantar Keratodermas In Other Genetic Diseasesmentioning

confidence: 99%

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

Guerra

Castori²,

Didona

et al. 2018

Acad Dermatol Venereol

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Hereditary palmoplantar keratodermas (PPKs) comprise a large and heterogeneous group of disorders characterized by persistent thickening of the epidermis at palmar and plantar surfaces. Clinical and genetic features of isolated and complex PPKs have been reviewed in part I of this 2-part review. Here we focus on clinical and molecular classification of syndromic PPKs which are recognized by additional extracutaneous manifestations, in particular deafness, specific mucosal lesions, cardiomyopathy, inborn errors of metabolism, involvement of internal organs or disorders of sexual development. Other genetic diseases, which may show palmoplantar involvement, such as selected subtypes of hereditary epidermolysis bullosa, various hereditary ichthyoses and other keratinization disorders, several ectodermal dysplasias and some multisystem genetic disorders, are also briefly summarized. PPK diagnosis is based on inheritance pattern, age at onset, morphology, distribution and severity of hyperkeratosis, pattern of additional dermatological and systemic manifestations and laboratory findings. Molecular analysis is at present the gold standard to confirm the diagnosis in PPK forms due to mutations in known causative genes. No specific and curative therapy is currently available for PPKs which highly impair patients' quality of life. Topical treatments are symptomatic and offer only temporary relief. Among systemic treatments, retinoids improve disease symptoms in the majority of patients.

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Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3

Cited by 7 publications

References 29 publications

A Novel Homozygous Nonsense Mutation in the PVRL4 Gene and Expansion of Clinical Spectrum of EDSS1

A Novel Homozygous Nonsense Mutation in the PVRL4 Gene and Expansion of Clinical Spectrum of EDSS1

Ektrodaktili Ektodermal Displazi-Klefting Sendromlu Ailesel Üç Olgu

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

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