PEDIATRIC DERMATOLOGYNEONATES

Dra. Marta Valdivielso-Ramos

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

AUTOINMUNE BLISTERING DISEASES IN CHILDREN

Dra Murrell

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

UPDATE ON ISSVA CLASSIFICATION OF CUTANEOUS VASCULAR

ANOMALIESDra. May El Hachem

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

Vascular malformations

• 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

VASCULAR MALFORMATIONSDra. Baselga

Vascular malformation may look clinically as “tumours” and may not be “static”

• 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

NEW SYNDROMES IN CLINICAL GENETICSDr Torrelo

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

KDSR deficiency spectrum

Incompatible with life Harlequin

ichthyosiswith TCP

RecessivePSEK

PPPK withTCP