"Bart syndrome"

A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth. After a few days, he developed blisters that were consistent with epidermolysis bullosa in histopathological examination. There was no systemic involvement such as pyloric atresia, ureteral stenosis, renal abnormalities, or arthrogryposis. All laboratory work and imaging studies were normal. A diagnosis of Bart syndrome was made based

abnormalities, and grouped them according to the Frieden classification. For Type 6 ACC (Bart syndrome) we reviewed neonatal photographs of all babies born with epidermolysis bullosa (EB) over 5 years. Excluding Type 6, there were 56 children with ACC. The scalp was involved in 82.1%, and Type 1 was the commonest type. Over 5 years, 13 of 108 neonates (12%) with EB were born with the appearance of Type 6 ACC

bullosa (EB), [40, 41, 42] , also referred to as Bart syndrome. Aplasia cutis congenita can be seen with any type of EB (simplex, junctional, or dystrophic). Many reports describe aplasia cutis congenita usually occurring on the lower extremities. A subgroup includes the association of pyloric or duodenal atresia, ureteral stenosis, renal abnormalities, craniofacial abnormalities, nail dystrophy , Kruse RL, Cestari TF. Familial epidermolysis bullosa with aplasia cutis congenita: Bart's syndrome?. Skinmed. 2003 Sep-Oct. 2(5):319-21. [QxMD MEDLINE Link]. 43. Atik B, Tan O, Bayram I, Tuncer O, Kirimi E. Asymmetrical nonscalp aplasia cutis congenita: a case report. J Dermatol. 2004 Nov. 31(11):923-6. [QxMD MEDLINE Link]. 44. Boente Mdel C, Frontini Mdel V, Acosta MI, Saleme C

bullosa (EB), [40, 41, 42] , also referred to as Bart syndrome. Aplasia cutis congenita can be seen with any type of EB (simplex, junctional, or dystrophic). Many reports describe aplasia cutis congenita usually occurring on the lower extremities. A subgroup includes the association of pyloric or duodenal atresia, ureteral stenosis, renal abnormalities, craniofacial abnormalities, nail dystrophy , Kruse RL, Cestari TF. Familial epidermolysis bullosa with aplasia cutis congenita: Bart's syndrome?. Skinmed. 2003 Sep-Oct. 2(5):319-21. [QxMD MEDLINE Link]. 43. Atik B, Tan O, Bayram I, Tuncer O, Kirimi E. Asymmetrical nonscalp aplasia cutis congenita: a case report. J Dermatol. 2004 Nov. 31(11):923-6. [QxMD MEDLINE Link]. 44. Boente Mdel C, Frontini Mdel V, Acosta MI, Saleme C

and aplasia cutis. Int J Dermatol. 1991 Jul. 30(7):481-4. [QxMD MEDLINE Link]. 41. Bigliardi PL, Braschler C, Kuhn P, Sigrist J, Buechner S, Rufli T. Unilateral aplasia cutis congenita on the leg. Pediatr Dermatol. 2004 Jul-Aug. 21(4):454-7. [QxMD MEDLINE Link]. 42. Benvenuto C, Kraemer CK, Kruse RL, Cestari TF. Familial epidermolysis bullosa with aplasia cutis congenita: Bart's syndrome?. Skinmed. 2003 Sep-Oct. 2(5):319-21. [QxMD MEDLINE Link]. 43. Atik B, Tan O, Bayram I, Tuncer O, Kirimi E. Asymmetrical nonscalp aplasia cutis congenita: a case report. J Dermatol. 2004 Nov. 31(11):923-6. [QxMD MEDLINE Link]. 44. Boente Mdel C, Frontini Mdel V, Acosta MI, Saleme C, Barrionuevo S, Asial R. Extensive symmetric truncal aplasia cutis congenita without fetus

and aplasia cutis. Int J Dermatol. 1991 Jul. 30(7):481-4. [QxMD MEDLINE Link]. 41. Bigliardi PL, Braschler C, Kuhn P, Sigrist J, Buechner S, Rufli T. Unilateral aplasia cutis congenita on the leg. Pediatr Dermatol. 2004 Jul-Aug. 21(4):454-7. [QxMD MEDLINE Link]. 42. Benvenuto C, Kraemer CK, Kruse RL, Cestari TF. Familial epidermolysis bullosa with aplasia cutis congenita: Bart's syndrome?. Skinmed. 2003 Sep-Oct. 2(5):319-21. [QxMD MEDLINE Link]. 43. Atik B, Tan O, Bayram I, Tuncer O, Kirimi E. Asymmetrical nonscalp aplasia cutis congenita: a case report. J Dermatol. 2004 Nov. 31(11):923-6. [QxMD MEDLINE Link]. 44. Boente Mdel C, Frontini Mdel V, Acosta MI, Saleme C, Barrionuevo S, Asial R. Extensive symmetric truncal aplasia cutis congenita without fetus

* Ullrich congenital muscular dystrophy COL7: * Epidermolysis bullosa dystrophica * Recessive dystrophic epidermolysis bullosa * Bart syndrome * Transient bullous dermolysis of the newborn COL8: * Fuchs' dystrophy 1 COL9

to the preference of 2,3-BPG for hemoglobin A, hemoglobin F binds to oxygen with more affinity, in average.[13]Even higher oxygen affinity – hemoglobin Barts (four γ subunits)[edit]Hemoglobin Barts is an abnormal form of hemoglobin produced in hemoglobin Barts syndrome or alpha-thalassemia major, the most severe form of alpha-thalassemia. Alpha-thalassemia is a genetic blood disorder and one of the most common hemoglobin-related diseases, affecting the production of α subunits from hemoglobin.[14] Depending on how many genes coding for the α subunit are impacted (between one and four), patients with this disease can have reduced to no production of the α subunit of the hemoglobin. As a consequence, less hemoglobin is available and this affects oxygen supply to the tissues. Hemoglobin Barts syndrome manifests

* Ullrich congenital muscular dystrophy COL7: * Epidermolysis bullosa dystrophica * Recessive dystrophic epidermolysis bullosa * Bart syndrome * Transient bullous dermolysis of the newborn COL8: * Fuchs' dystrophy 1 COL9