Prevalence of cutaneous lesions
• 4658 neonates1. Transient, benign cutaneous lesions2. Vascular lesions3. Traumatic, iatrogenic, congenital or acquired disorders with
skin injuries4. Pigmented lesions5. Developmental abnormalities, benign skin tumours
Dra. Zsanett
Transient epidermal hyperpigmentation
• Darkly pigmented neonates• Genital areas• Linear fashion on the lower abdomen (linea nigra)• Areola • Axilla • Helix • Base of fingernails• Transient hyperpigmentation• In utero stimulation by melanocyte-stimulating hormone
Neonatal autoimmune blistering disease: a systematic review. • PEMPHIGUS
• Blisters or erosions only• Neonatal: passive transfer of maternal IgG• Maternal pemphigus activity generally does not correlate with neonatal
pemphigus activity• Supportive treatment only
• PEMPHIGOID• Blisters, erosions, vesicles, urticarial plaques, reticular eruptions• Neonatal: mothers with pemphigoid gestations• Resolves spontaneously in a few weeks• More extensive
• LABD• All cases have mucosal involvement• None reported maternal disease,• Neonates have their own IgA autoantibodies
Zhao. Pd 2016; 1-8
Takehome messages
• Blistering neonate far more likely to have EB than an autoimmune blistering disease
• Commonest autoimmune blistering disease in children is chronic bullous disease of childhood, followed by EBA
• Prognosis much better than adulthood• Treatment: usually prednisone & dapsone sufficient
Vascular tumours: hemangiomas
• 10 patients: 7 (arm), 3 (leg)• Segmental pattern• Prominent surface veins• No significant asymmetries in limbs, no
other visceral anomalies• Soft tissue hypertrophy was not
progressive, remained unchanged overtime
Planas-Ciudad S. IH-MAG associated with soft tissue hypertrophy. JEADV 2017, in press
Hemangioma
• BEARD HEMANGIOMA• Telangiectatic and medium type more associated with subglotic
involvement• Piram. JEADV 2016, 30: 2056-9
• PROPRANOLOL• Developmental delay associated with very low birth weight <1kg• No impact on developmental delay• No psychological problems (infants 7 years-old)• Moyakine JAAD 2017
Dra. Dompmartin
• Facial PWSs follow embryonic vascular development of the face, rather than trigeminal nerve distribution
• FOREHEAD INVOLVEMENT PREDICTS: seizures, neurodevelopmental abnormalities, glaucoma or abnormal MRI of the brain
Lymphatic &venous malformations
• PRIMARY LYMPHEDEMA: FLT4, VEGFR3, VEGFC, and more
• BEAN SYNDROME: Vikkula discovered somatic mutations in TEK, the gene encoding TIE2
• Soblet J .Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations. JID 2017 Jan;137(1):207-216
• KLIPPEL-TRENAUNAY: PIK3CA• This observation has potential diagnostic and therapeutic implications
• Vahidnerhad. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). Exp Dermatol 2016;25:17-9
• Somatic activating mutations in GNAQ• Sturge-Weber syndrome• Port-wine stains• Congenital hemangioma: NICH, RICH• Uveal melanoma
Same gene and same mutation may cause a vascular tumour and a vascular malformation and even cancer
Ayturk U. The American Journal of Human Genetics 98, 789-95, April 7, 2016
• Wide number of mutations: no good correlation phenotype- genotype in overgrowth syndromes
• Different level of mosaicism 1-59%Mirzaa G et al. JCI Insight. 2016 Jun 16;1(9). pii: e87623 Kuenz P et al Genetics in Medicine 2017, feb
• Molecular diagnosis: targeted therapy• Sirolimus for the treatment of complicated vascular anomalies in children
Potentially treatable!!
Cream with acyl-ceramides Reprogrammation of plateletsfrom stem cells
Palmoplantar & perineal keratoderma with TCP
• A new entity, described in Spain• First disease described in humans due to KDSR mutations• Importance of ceramides in the skin• First human model of S1P deficiency in platelets