Acute Digital Gangrene in a Newborn

Kawoosa

et al. 2011

Pediatric Dermatology

Antiphospholipid syndrome presenting in the neonatal period is very rare. Although antiphospholipid antibodies from mothers with antiphospholipid syndrome can cross the placenta and put their neonates at risk, the occurrence of thrombotic complications in these neonates is uncommon. We present a 10-day-old neonate who developed Klebsiella sepsis with arterial gangrene of the left lower limb. Investigations revealed thrombosis of the left femoral artery with both the mother and the neonate positive for antiphospholipid antibodies. In conclusion, passive transfer of antiphospholipid antibodies from mothers to their offspring can be associated with significant complication in the presence of secondary risk factors.

Section: Discussionmentioning

confidence: 99%

Antiphospholipid Syndrome in a Neonate

Kawoosa

et al. 2011

Pediatric Dermatology

“…Ischaemia and gangrene of the extremities in newborns may be provoked by many different causes, such as umbilical, radial or ulnar artery cannulation, antiphospholipid syndrome, infections, vascular malformations and vasculitis. [3][4][5] The cases due to artery catheterization are easily diagnosed because they occur immediately after the procedure is started, as in our case, in which signs of ischaemia occurred immediately after UC.…”

mentioning

confidence: 84%

Anonychia, hyponychia and spontaneous amputation of the distal phalanges as a consequence of ischaemic necrosis of the extremities after umbilical catheterization

et al. 2007

to cause MM. 4 Similarly, although this woman had a PTPN11 mutation, there has been no previous report describing the development of MM in patients with a germline PTPN11 mutation. 1 In this context, it is noteworthy that both BRAF and PTPN11 are involved in the mitogen-activated protein kinase (MAPK) cascade relevant to the development of MM. 1,4 It is possible, therefore, that the somatic BRAF mutation took place in apparently normal but germline PTPN11 mutation-positive skin tissue, resulting in the development of MM because of a drastic perturbation of the MAPK signalling. This notion would explain why MM arose from an apparently naevi-free region at an old age, because such a somatic mutation would occur in both naevi-positive and -negative skin tissues in an agedependent fashion.One may argue that while the BRAF mutation activates the MAPK signalling, 4,5 recent studies have shown that LS-associated PTPN11 mutations impair catalytic functions and exert dominant negative effects, in contrast to NS-and neoplasiaassociated PTPN11 mutants that exert gain-of-function effects with excessive phosphatase activities. 1,8 Indeed, the NS-and neoplasia-associated mutations and the LS-associated mutations are mutually exclusive. 1 However, despite the marked difference in in vitro functions of the PTPN11 mutants, LS and NS share similar clinical features, 1 and are sometimes associated with malignant diseases such as leukaemia and neuroblastoma. [1][2][3]9 Thus, NS-and neoplasia-associated PTPN11 mutants and LS-associated PTPN11 mutants may have a common functional perturbation in vivo that could raise the predisposition to malignant lesions. In addition, the novel PTPN11 mutation might have a specific tumorigenic effect. Further studies will determine whether or not PTPN11 mutation-positive LS is a risk factor for the development of MM.

Open Access Maced J Med Sci

“…Primary Raynaud’s syndrome must be differentiated from secondary Raynaud’s phenomenon seen in scleroderma, mixed connective tissue disease, dermatomyositis, systemic lupus erythematosus or anti-phospholipid syndrome [ 6 ][ 7 ].…”

Section: Vascular Disordersmentioning

confidence: 99%

Acrocyanosis – A Symptom with Many Facettes

Wollina¹,

Koch²,

Langner³

et al. 2018

Self Cite

Acrocyanosis is an uncommon complaint belonging to the acro-syndromes. It typically presents with coolness and bluish discolourations of hands, feet, ears, nose, lips and nipple. The most frequently affected parts of the body are the hands. This review discusses physical factors, vascular disorders, infectious diseases, haematological disorders, solid tumours genetic disorders, drugs, eating disorders, and spinal disease presenting as or leading to acrocyanosis.