Aplasia cutis congenita is a rare disorder characterized by congenital absence of skin. Ilona J. Frieden classified ACC in 1986 into 9 groups on the basis...
6 KB (535 words) - 12:08, 27 December 2024
final outcome is primarily determined by the underlying disorder. Aplasia cutis congenita is a condition in which some or large portions of the skin is missing...
11 KB (1,184 words) - 22:22, 1 July 2024
detect changes in the environment. The cutis is the layer located above the subcutis. Aplasia cutis congenita results in thin, transparent skin usually...
2 KB (165 words) - 03:31, 7 December 2024
Aplasia cutis congenita-intestinal lymphangiectasia syndrome is a very rare genetic disorder which is characterized by aplasia cutis congenita, intestinal...
3 KB (146 words) - 09:00, 27 October 2023
cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin. Two key features of AOS are aplasia cutis congenita with or...
18 KB (1,952 words) - 19:51, 23 August 2024
Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle...
42 KB (4,626 words) - 15:43, 7 December 2024
Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin...
14 KB (1,454 words) - 02:50, 12 January 2025
Aplasia Aplasia cutis autosomal recessive Aplasia cutis congenita Aplasia cutis congenita dominant Aplasia cutis congenita epibulbar dermoids Aplasia...
24 KB (1,972 words) - 21:28, 16 August 2024
Aplasia cutis-myopia syndrome is a rare genetic disorder characterized by a combination of aplasia cutis congenita, high myopia, and dysfunction of the...
3 KB (246 words) - 23:19, 25 April 2024
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 KB (55 words) - 08:15, 8 June 2024
Bart syndrome, also known as aplasia cutis congenita type VI, is a rare genetic disorder characterized by the association of congenital localized absence...
3 KB (188 words) - 19:52, 23 August 2024
symmetrical aplastic nevi of temples, bitemporal aplasia cutis congenita, bitemporal aplasia cutis congenita: OMIM 136500) and Setleis syndrome (facial ectodermal...
5 KB (569 words) - 07:08, 11 August 2024
drowsiness dizziness decreased platelet count (thrombocytopenia) aplasia cutis congenita (prenatal exposure) thyroid gland enlargement (prenatal exposure)...
18 KB (1,665 words) - 21:39, 13 January 2025
known as "Finlay–Marks syndrome") is a condition associated with aplasia cutis congenita. The key affected features of this condition are described in its...
13 KB (1,335 words) - 13:55, 2 November 2024
dysautonomia Motor neuropathy Motor sensory neuropathy type 1 aplasia cutis congenita Mounier-Kuhn syndrome Mount–Reback syndrome Mousa Al din Al Nassar...
28 KB (2,469 words) - 04:35, 13 June 2024
2 Cutis marmorata telangiectatica congenita Cutis verticis gyrata mental deficiency Cutis verticis gyrata thyroid aplasia mental retardation Cutis verticis...
40 KB (3,657 words) - 03:02, 17 August 2024
sequence, congenital constriction bands, pseudoainhum) Aplasia cutis congenita (cutis aplasia, congenital absence of skin, congenital scars) Arteriovenous...
198 KB (17,971 words) - 12:13, 2 December 2024
autosomal recessive connective tissue disorder included in the spectrum of cutis laxa syndromes. This condition is inherited in an autosomal recessive pattern...
14 KB (1,449 words) - 16:00, 10 October 2024
Sucking blisters - blisters on the hands of newborns due to sucking Aplasia cutis congenita Most commonly these are primary cutaneous infections, caused by...
4 KB (399 words) - 11:53, 2 November 2024
groups: congenital or acquired. Congenital defects may include aplasia cutis congenita, congenital nevus, congenital vascular malformations and congenital...
22 KB (2,299 words) - 05:00, 5 February 2023
is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients". American Journal of Medical...
25 KB (2,526 words) - 15:51, 28 December 2024
and Design and Philosophy. Karle was born with a rare condition, aplasia cutis congenita, missing a large region of skin on her scalp and also missing bone...
17 KB (1,430 words) - 12:37, 30 September 2024
multiple congenital anomalies. This disorder is a distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck...
10 KB (1,262 words) - 11:46, 18 August 2023
Battered person syndrome Bazex–Dupré–Christol syndrome Beare–Stevenson cutis gyrata syndrome Beckwith–Wiedemann syndrome Behcet's syndrome Behr syndrome...
42 KB (4,068 words) - 16:56, 1 November 2024
PAX6 1:200,000 Bainbridge–Ropers syndrome ASXL3 de novo Beare–Stevenson cutis gyrata syndrome 10q26, FGFR2 1:390,000,000 Beckwith–Wiedemann syndrome IGF-2...
43 KB (995 words) - 01:48, 14 January 2025
dominant; 123700; FBLN5 Cutis laxa, autosomal recessive; 219100; FBLN5 Cutis laxa, autosomal recessive, type I; 219100; EFEMP2 Cutis laxa, autosomal recessive...
234 KB (18,877 words) - 06:16, 6 November 2024