Erythrokeratodermia variabilis et progressiva
آخر تحديث 2 أكتوبر 2024
يتوافق مع الإرشادات التحريرية
- تنزيلتنزيل
- مشاركة
- Language
- نقاش
- نسخة صوتية
- أضف إلى المصادر المفضلة على جوجل
Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterised by two major features. The first is hyperkeratosis, which is rough, thickened skin. These patches are usually reddish-brown and can either affect many parts of the body or occur in only a small area. They tend to be fixed, meaning they rarely spread or go away. However, the patches can vary in size and shape, and in some affected people they get larger over time. The areas of hyperkeratosis are generally symmetric, which means they occur in the same places on the right and left sides of the body.
الوصف
Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterised by two major features. The first is hyperkeratosis, which is rough, thickened skin. These patches are usually reddish-brown and can either affect many parts of the body or occur in only a small area. They tend to be fixed, meaning they rarely spread or go away. However, the patches can vary in size and shape, and in some affected people they get larger over time. The areas of hyperkeratosis are generally symmetric, which means they occur in the same places on the right and left sides of the body.
The second major feature of EKVP is patches of reddened skin called erythematous areas. Unlike the hyperkeratosis that occurs in this disorder, the erythematous areas are usually transient, which means they come and go. They vary in size, shape, and location, and can occur anywhere on the body. The redness is more common in childhood and can be triggered by sudden changes in temperature, emotional stress, or trauma or irritation to the area. It usually fades within hours to days.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
EKV
EKV-P
EKVP
Erythrokeratodermia variabilis
Erythrokeratodermia variabilis of Mendes da Costa
Erythrokeratodermia, progressive symmetric
Progressive symmetrical erythrokeratoderma of Gottron
Related patient information and medicines
Patient information leaflet
تنظير المنصف
تنظير المنصف هو a type of 'keyhole' surgery that allows doctors to look inside the chest. It can be used to take samples of body tissue for further testing. Note : the information below is a general guide only. The arrangements, and the way tests are performed, may vary between different hospitals. Always follow the instructions given by your.
Medicine leaflet
إيتانيرسيبت
About etanercept Type of medicine A cytokine modulator biological medicine Used for Rheumatoid arthritis; ankylosing spondylitis; psoriatic arthritis; juvenile idiopathic arthritis (a type of arthritis in children); plaque psoriasis Also called Benapali®; Enbrel®; Erelzi® Available as Subcutaneous injection Etanercept is a biological medicine used.
Medicine leaflet
إيثينيل استراديول لأعراض انقطاع الطمث أو اضطرابات الدورة الشهرية
About ethinylestradiol Type of medicine An oestrogen (may also be spelled estrogen) Used for Hormone replacement therapy (HRT); menstrual problems Available as Tablets (discontinued) Ethinylestradiol is a man-made form of the naturally occurring female hormone called oestrogen. It is prescribed to treat period (menstrual) problems , and also to.
Medicine leaflet
غرسة إيتونوجيستريل لمنع الحمل
As with most hormonal contraceptives, side-effects include breast discomfort, fluid retention and an increase in acne. About etonogestrel contraceptive implants Type of medicine Progestogen Used for Contraception Also called Nexplanon® Available as Implant Etonogestrel is a progestogen, which is a female sex hormone similar to the progesterone.
Medicine leaflet
إيتودولاك للألم والالتهاب
Etodolac is a medicine called a non-steroidal anti-inflammatory drug. It is also known as 'an NSAID'. Before you take etodolac, tell your doctor if you have ever had an allergic reaction to any other anti-inflammatory painkiller. It is best to take your doses with food. The most common side effects of etodolac are stomach pain, indigestion, and.
Medicine leaflet
إيثوسكسيميد لعلاج الصرع
Ethosuximide may make you feel sick (nausea) when you first start taking it. This should soon settle down. About ethosuximide Type of medicine An antiepileptic medicine Used for Epilepsy with absence seizures Also called Emeside®, Epesri® Available as Capsules and oral liquid medicine نوبات الغياب are a form of epilepsy. They mainly occur in.
قراءة إضافية ومراجع
- Erythrokeratodermia variabilis et progressiva; MedlinePlus, National Library of Medicine.
- Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, Paller AS, Choate KA. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. J Invest Dermatol. 2015 Jun;135(6):1540-1547. doi: 10.1038/jid.2014.485. Epub 2014 Nov 14.
- Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. Am J Hum Genet. 2017 Jun 1;100(6):978-984. doi: 10.1016/j.ajhg.2017.05.003.
- Chi J, Li L, Liu M, Tan J, Tang C, Pan Q, Wang D, Zhang Z. Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death. PLoS One. 2012;7(2):e32531. doi: 10.1371/journal.pone.0032531. Epub 2012 Feb 29.
- Deng Y, Wang H, Mou Y, Zeng Q, Xiong X. Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva. Australas J Dermatol. 2019 Feb;60(1):e87-e89. doi: 10.1111/ajd.12887. Epub 2018 Jul 10. No abstract available.
- Duchatelet S, Hovnanian A. Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia. J Invest Dermatol. 2015 Jun;135(6):1475-1478. doi: 10.1038/jid.2014.535.
- Fuchs-Telem D, Pessach Y, Mevorah B, Shirazi I, Sarig O, Sprecher E. Erythrokeratoderma variabilis caused by a recessive mutation in GJB3. Clin Exp Dermatol. 2011 Jun;36(4):406-11. doi: 10.1111/j.1365-2230.2010.03986.x.
- Gottfried I, Landau M, Glaser F, Di WL, Ophir J, Mevorah B, Ben-Tal N, Kelsell DP, Avraham KB. A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Hum Mol Genet. 2002 May 15;11(11):1311-6. doi: 10.1093/hmg/11.11.1311.
- Ishida-Yamamoto A. Erythrokeratodermia variabilis et progressiva. J Dermatol. 2016 Mar;43(3):280-5. doi: 10.1111/1346-8138.13220.
- Macari F, Landau M, Cousin P, Mevorah B, Brenner S, Panizzon R, Schorderet DF, Hohl D, Huber M. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Am J Hum Genet. 2000 Nov;67(5):1296-301. doi: 10.1016/S0002-9297(07)62957-7. Epub 2000 Oct 3.
- Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol. 2003 Apr;120(4):601-9. doi: 10.1046/j.1523-1747.2003.12080.x.
- Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet. 1998 Dec;20(4):366-9. doi: 10.1038/3840.
- Umegaki-Arao N, Sasaki T, Fujita H, Aoki S, Kameyama K, Amagai M, Seishima M, Kubo A. Inflammatory Linear Verrucous Epidermal Nevus with a Postzygotic GJA1 Mutation Is a Mosaic Erythrokeratodermia Variabilis et Progressiva. J Invest Dermatol. 2017 Apr;137(4):967-970. doi: 10.1016/j.jid.2016.11.016. Epub 2016 Nov 24. No abstract available.
- van Steensel MA, Oranje AP, van der Schroeff JG, Wagner A, van Geel M. The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. Am J Med Genet A. 2009 Feb 15;149A(4):657-61. doi: 10.1002/ajmg.a.32744.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
2 أكتوبر 2024 | أحدث إصدار
1 Oct 2018 | نُشر في الأصل
انضم إلى المحادثة
شارك أفكارك أو تجاربك مع الآخرين في مجتمعات المرضى.
اسأل، شارك، تواصل.
تصفح المناقشات، اطرح الأسئلة، وشارك التجارب عبر مئات المواضيع الصحية.
اشترك في النشرة الإخبارية للمرضى
جرعتك الأسبوعية من النصائح الصحية الواضحة والموثوقة - مكتوبة لمساعدتك على الشعور بالاطلاع والثقة والتحكم.
من خلال الاشتراك، فإنك تقبل سياسة الخصوصية. يمكنك إلغاء الاشتراك في أي وقت. نحن لا نبيع بياناتك أبدًا.