PEDIATRIC DERMATOLOGYDra. Teresa M. Menchón

Rheumatology in paediatric dermatology

• Genetic architecture of linear localized scleroderma• Results:

• Analysis with 3 somatic callers of 20 lesions and deep sequencing of 4 patients with similar lesions revealed no rare and damaging mutation in common

• This study failed to prove the hypothesis of genetic mosaicism in linear localized scleroderma.

Lisa Weibel, Switzerland

Rheumatology in paediatric dermatology

• Neurological complications in localized scleroderma en coupde sabre/Parry-Romberg Syndrome

• Present in 10 to 20%• Headaches/migraine (can be a presenting feature)• Seizures• Hemiparesis (can be a presenting feature)• Personality changes, intellectual deterioration

• All patients with Scleroderma ECDS/Parry-Romberg Syndromeshould be studied with a brain MRI with contrast

Lisa Weibel

Rheumatology in paediatric dermatology

• Facial Becker nevus mimicking Parry-Romberg Syndrome

• Becker nevus may be associated with ipsilateral hypoplasia ofsoft tissue/muscle, bone, typically on the trunk

• Exceedingly rare on the face

• Postinflammatory hyperpigmentation may be present in Parry-Romberg syndrome but affected skin never shows hypertrichosis and/or papillomatosis

• Careful differentiation of both entities is pivotal due to theimportant therapeutical impact

Lisa Weibel

Rheumatology in paediatric dermatology

• Misdiagnosis and delay in referral of children with localizedscleroderma

• Most important clinical clues are:• Blaschko-linear distribution• Atrophy of underlying tissue• Skin fibrosis/sclerosis• Localized hair loss (scale/eyelashes, eyebrows)

Lisa Weibel

Rheumatology in paediatric dermatology

• Treatment of localized scleroderma in childhood

• Superficial (plaque-type)• Solitary: topical treatment• Multiple (Phototherapy UVA1, UVBnb)

• Linear, deep, generalized, pansclerotic, combined• Systemic corticosteroids and methotrexate• Mycophenolatomofetil• Abatacept• (Autologous fat injection)

Lisa Weibel

Rheumatology in paediatric dermatology

• Systemic Corticosteroids• Usually given if history of progressive disease/marked sclerosis or

inflammation• Ideally iv-methylprednisolone 30mg/kg per infusion, max 500 mg (1000

mg)• On 3-consecutive days per month for 3 (6) months• Alternatively oral prednisolone 0.7-1.5 mg/kg/d for 2-4 weeks, tapering

thereafter

• Methotrexate• 1 mg/kg/week (max 25 mg), ideally sc. sometimes oral

Lisa Weibel

Rheumatology in paediatric dermatology

• Challenges, particularly in morphea en coup de sabre/Parry-Romberg syndrome• Ongoing low-grade disease activity despite improvement of skin

sclerosis with treatment-resulting in tissue atrophy• Should we treat slowly progressing tissue atrophy more agressively?• Our current treatment modalities do not seem to sufficiently prevent

tissue atropyh and long-term relapses

Lisa Weibel

Spitzoid neoplasms and differential diagnosis

• Spitzoid neoplasms are a genetically distinct from conventional commonacquired nevi and melanoma (including pediatric melanoma)

• Spitzoid neoplams are clinical, histopathological and geneticallyheterogeneus

• Genetic aberrations represent targets for therapeutic interventions and offer investigational treatment options for patients with metastatic disease

• Morphological features point to the underlying genetic aberrations• Epithelioid Spitz tumors: BAP1 loss• Desmoplastic Spitz nevi: HRAS mutations (and gains 11p)• Plexiform Spitz tumors: ALK fusions

• Inmunohistochemistry enables the accurate identification of tumors withBAP1 loss, NTRK1 fusions

• BAP1 loss Spitz tumors are associated with a hereditary tumor syndrome

Thomas Wiesner, Austria

Neutrophilic diseases in children: Pitfalls and red flags• Neutrophilic dermatoses in children

• Aseptic, polymorphonuclear infiltrations of the epidermis, dermis orsubcutaneos tissue• Very rare, not well classified• Relationship with genetic disease• May have differences with adults NDs

• Sweet Syndrome (incl. Marshall syndrome)• Pyoderma gangrenousus• Autoinflamatory diseases

• Pustular syndromes• Neutrophilic urticarial syndromes• CANDLE syndrome• Acneiform syndromes

A Torrelo, Spain

Pyoderma gangrenosum

• Ulcerative• Vesiculobullous• Pustular• Superficial granulomatosas pyoderma• Pyostomatitis vegetans

• More disseminated than adults• Lesions more common multiple in children• Association with autoinflammatory diseases• More frecuent association with hematologic malignancies• Elastic diseases