Aplasia cutis congenita

Aplasia cutis congenita
Classification and external resources
Aplasia cutis congenita
ICD-10	Q84.8 (ILDS Q84.810)
OMIM	107600
DiseasesDB	32731
eMedicine	article/1110134

Aplasia cutis congenita (also known as "Cutis aplasia," "Congenital absence of skin," and "Congenital scars"^[1]) is the most common congenital cicatricial alopecia, and is a congenital focal absence of epidermis with or without evidence of other layers of the skin.^{[2]:650[3]:572}

It can be associated with Johanson-Blizzard syndrome, Adams-Oliver syndrome, trisomy 13, and Wolf-Hirschhorn syndrome.^[4] It is also seen with exposure to Methimazole in utero. This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19. ^[5]

See also

• List of cutaneous conditions

a form of aplasia cutis is also seen in patau syndrome (trisomy 13) en.wikipedia.org/wiki/patau_syndrome

References

1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
3. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
4. ^ Online 'Mendelian Inheritance in Man' (OMIM) 107600
5. ^ Malan, Valerie, et al. "array-CGH recognizable genetic condition identified by 19q13.11 deletion syndrome: a novel clinically". J. Med. Genet.. http://jmg.bmj.com/cgi/content/abstract/jmg.2008.062034v1. Retrieved April 8, 2009. 

External Links

• Aplasia cutis congenita (ACC) on emedicine

This Genodermatoses article is a stub. You can help Wikipedia by expanding it.v · Categories: Cutaneous congenital anomalies Genetic disorders with OMIM but no gene Genodermatoses stubs Wikimedia Foundation. 2010. Игры ⚽ Поможем сделать НИР Congenital Heart Surgeons' Society Alveolar capillary dysplasia Look at other dictionaries: aplasia cutis congénita — Ausencia congénita de un área localizada de la piel. El defecto suele estar cubierto por una membrana delgada y translúcida o por un tejido cicatricial, o puede quedar al descubierto y ulcerarse. Diccionario Mosby Medicina, Enfermería y Ciencias… …   Diccionario médico Aplasia cutis congenita — L aplasie cutis congenita, (ACC), (Pediatric Dermatology 3e édition), correspond à une absence congénitale et visible, dès la naissance, de zones de peau sur des surfaces petites ou étendues. La lésion, si elle guérit, donne une peau fine, plate… …   Wikipédia en Français aplasia cutis congenita — the congenital absence of skin on the scalp, usually in one or more small patches. It may result from an infection in the uterus or from a developmental abnormality …   Medical dictionary aplasia cutis congenita — a usually lethal congenital condition consisting of localized failure of development of skin, usually of the scalp but sometimes of the trunk or limbs. The defects are usually covered by a thin translucent membrane or scar tissue, or may be raw,… …   Medical dictionary aplasia cutis congenita — the congenital absence of skin on the scalp, usually in one or more small patches. It may result from an infection in the uterus or from a developmental abnormality …   The new mediacal dictionary Membranous aplasia cutis — is a cutaneous condition, a type of aplasia cutis congenita, which can be seen along the embryonic fusion lines of the face.[1] See also List of cutaneous conditions References ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).… …   Wikipedia Cutis laxa — Classification and external resources ICD 10 L57.4, Q82.8 (ILDS Q82.816) ICD 9 …   Wikipedia Cutis marmorata telangiectatica congenita — Classification and external resources ICD 10 L95.0 OMIM 219250 …   Wikipedia Aplasia — Failure to develop. If something develops and then wastes away, that is atrophy. * * * 1. Defective development or congenital absence of an organ or tissue. 2. In hematology, incomplete, retarded, or defective development, or cessation of the… …   Medical dictionary List of diseases (A) — A listing of diseases.DiseasesTOC Aa Ab* Aagenaes syndrome * Aarskog Ose Pande syndrome * Aarskog syndrome * Aase Smith syndrome * Aase syndrome * ABCD syndrome * Abasia * Abdallat Davis Farrage syndrome * Abdominal aortic aneurysm * Abdominal… …   Wikipedia 18+ © Academic, 2000-2024 Contact us: Technical Support, Advertising Dictionaries export, created on PHP, Joomla, Drupal, WordPress, MODx. Mark and share Search through all dictionaries Translate… Search Internet Share the article and excerpts Direct link … Do a right-click on the link above and select “Copy Link”