Ustekinumab for pyoderma gangrenosum-like skin ulcerations in late-onset leukocyte adhesion deficiency.

Background: Leukocyte adhesion deficiency type 1 (LAD-1) is a congenital immunodeficiency leading to impaired trafficking of neutrophils to inflammation sites. Solitary or multiple pyoderma gangrenosum (PG)-like skin ulcers (PGLUs) have been reported previously in 13 children (aged 0.5-19 years) with LAD-1.

Dupilumab: Two sides of a side-effect.

The purported antiviral effect of dupilumab may be considered a positive side effect. Its mechanism, however, points to an underlying immunomodulation with potentially far-reaching consequences.

Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.

Background: Short anagen hair (SAH) is a rare paediatric hair disorder characterized by a short anagen phase, an inability to grow long scalp hair and a negative psychological impact. The genetic basis of SAH is currently unknown.

Objectives: To perform molecular genetic investigations in 48 individuals with a clinical phenotype suggestive of SAH to identify, if any, the genetic basis of this condition.

Identification of a novel sporadic U2HR pathogenic variant in a patient with Marie Unna hereditary hypotrichosis.

Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by coarse, wiry, and twisted hair developing during early childhood, and followed by progressive hair loss with puberty. We report a sporadic case of a 4-year-old boy with clinical features suggestive of MUHH, in whom we identified the new pathogenic variant c.67C>T; p.

Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.

Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a genodermatosis with autosomal dominant inheritance caused by mutations in FAM111B. We report another case with a new pathogenic variant and analyze all previously published 34 cases with a focus on sequence of clinical presentation and genotype-phenotype correlation. POIKTMP is characterized by marked age-dependent clinical expressivity.

Multicentric dermatofibrosarcoma protuberans in a child with severe combined immunodeficiency due to adenosine deaminase deficiency.

We report the case of a 4-year-old boy, post-human stem cell transplantation for severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (ADA), who developed multiple dermatofibrosarcoma protuberans (DFSP). We hypothesize a role for chimerism leading to accumulation of toxic metabolites which can cause DNA strand breaks and inhibit lymphocyte activation. Patients with ADA-SCID should remain under lifelong dermatologic surveillance as DFSP lesions can be quite inconspicuous.

Long-term sirolimus treatment in blue rubber bleb nevus syndrome: Case report and review of the literature.

Blue rubber bleb nevus syndrome is a rare vascular syndrome characterized by continuous eruption of vascular nodules in the skin, mucous membranes, and solid organs due to somatic activating mutations of the angiopoietin receptor TEK gene. It may be complicated by acute life-threatening hemorrhage and localized intravascular coagulation. We report an 11-year-old girl with complicated blue rubber bleb nevus syndrome treated with sirolimus since the age of 2.

Genes and phenotypes in vascular malformations.

Vascular malformations (VMs) are caused by localized defects of vascular development. Most VMs are due to sporadic, postzygotic mutations, while some are the result of autosomal dominant germline mutations. Genotype-phenotype correlation is influenced by many factors.

Late growth of infantile hemangiomas in children >3 years of age: A retrospective study.

Background: The proliferative phase of infantile hemangiomas (IHs) is usually complete by 9 months of life. Late growth beyond age 3 years is rarely reported.

Objective: To describe the demographic and clinic characteristics of a cohort of patients with late growth of IH, defined as growth in a patient >3 years of age.

Combined neodymium-doped yttrium aluminum garnet laser and sclerotherapy in Gorham-Stout syndrome.

Bone involvement is relatively rare in vascular malformations. Gorham-Stout disease, also referred to as , is characterized by osteoclast activation and osteolysis caused by proliferating lymphatic endothelial cells. We present the case of a 12-year-old boy who had Gorham-Stout disease at the age of 8 years.

Efficacy and safety of adalimumab every other week versus methotrexate once weekly in children and adolescents with severe chronic plaque psoriasis: a randomised, double-blind, phase 3 trial.

Background: Adalimumab is indicated for the treatment of moderate to severe psoriasis in adults. We assessed the efficacy and safety of adalimumab in children and adolescents with severe plaque psoriasis.

Methods: This randomised, double-blind, multiperiod, phase 3 trial was done at 38 clinics in 13 countries.

Infantile haemangioma.

With a prevalence of 4·5%, infantile haemangiomas are the most common benign tumours of infancy, arising in the first few weeks of life and exhibiting a characteristic sequence of growth and spontaneous involution. Most infantile haemangiomas do not require therapy. However, to identify at-risk haemangiomas, close follow-up is crucial in the first weeks of life; 80% of all haemangiomas reach their final size by 3 months of age.

Raynaud's syndrome in children: systematic review and development of recommendations for assessment and monitoring.

Objectives: To develop recommendations for investigation and monitoring of children with Raynaud's syndrome, based on paediatric evidence collated by a systematic review.

Methods: A systematic review was undertaken to establish the paediatric evidence for assessment and monitoring of Raynaud's syndrome. An expert panel including members of the Paediatric Rheumatology European Society (PRES) Scleroderma Working Group, were invited to a consensus meeting where recommendations were developed based on evidence graded by the systematic review and where evidence was lacking, consensus opinion.

Lesion Morphology in Multifocal Infantile Hemangiomas.

Background/objectives: Multifocal infantile hemangiomas (MIHs; previously called neonatal hemangiomatosis) can be associated with extracutaneous hemangiomas. We observed different morphologic types of hemangiomas in children with MIHs and sought to find out whether they are related to the clinical course.

Methods: This was a retrospective study of 103 infants with MIHs and a control group of 261 age-matched patients with solitary focal infantile hemangiomas (IHs) seen at an academic pediatric dermatology department between 2004 and 2014.

Anatomical patterns of infantile hemangioma (IH) of the extremities (IHE).

Background: From 18% to 30% of infantile hemangiomas (IH) are located on the extremities (IHE). They can be divided into localized, segmental, and minimal or arrested growth (IH-MAG) subtypes.

Objective: We sought to correlate localization of IHE with the anatomy of the arterial vascular supply.