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Diagnosis?

Diagnosis Squamous Cell Carcinoma

Any Additional Diagnosis?

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Epidermolysis Bullosa, Dystrophic Type

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Epidermolysis Bullosa

Incidence in US: 1 per 25,000-50,000 Carriers 1 in 150

Major Categories (at Least 20 subtypes) Epidermolysis Bullosa Simplex (intraepidermal,

92%, AD) Junctional Epidermolysis Bullosa (lamina lucida

or central basement membrane zone, 2%, AR) Dystrophic Epidermolysis Bullosa (sublamina

densa basement membrane zone, 5%, AD/AR ) Hemidesmosomal Epidermolysis Bullosa (<1%)

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Epidermolysis Bullosa

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Dystrophic EB

Junctional EB

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Simplex EB

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Epidermolysis Bullosa, Dystrophic Type and Squamous Cell Carcinoma (SCC)

Cutaneous SCC: Significant Morbidity and Mortality in DEB (Hallopeau--Siemens Recessive DEB - Cumulative Risk 76.5% by Age 60)

SCC in DEB: Predilection for Limbs and Bony Prominences Where Blistering and Scarring Most Pronounced

Screening for Cutaneous SCCs in DEB Commence in Teenage Years

Entire Skin of DEB Patients Examined Every 6 Months, With All Dressings Removed

Low Threshold for Biopsy of Chronic Non-Healing Ulcers and Hyperkeratotic Nodules or Plaques

Detect SCCs Early with Surgical Excision

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Case 4 History 2 year-old male who parents took to

pediatrician for concern regarding oral oozing from erupting baby molar teeth

Referred to pediatric dentist who noticed oral mucosa and cutaneous petechiae and bruising

Referred to pediatric hematologist by the pediatric dentist

Parents did not followup with referral

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Case 4 History Presented to TCH Emergency Room with

tachycardia, hypercalcemia and oral and cutaneous petechiae and bruises

A history of 2 weeks of vague diffuse muscle cramps, abdominal pain and lower leg "puffiness" was elicited from the parents.

The parents also noticed a recent weight gain.

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339 Grams, 12 x 9 x 6 cm

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Diagnosis?

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Wilms Tumor with Additional Features of Cystic Nephroma/Cystic Partially Differentiated Wilms Tumor in Beckwith-Wiedemann Syndrome

What About the Bleeding Problem?

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Wilms Tumor-Associated Coagulopathy: Etiology

Tumor Adsorption of von Willebrand Factor and Other Coagulation Cascade Factors

Rapid Clearance of von Willebrand Factor Elevated Hyaluronic Acid with Resultant Blood

Hyperviscosity High Shear Forces Lead to Adsorptive Capture of von

Willebrand Factor Multimers on Platelet Surfaces

Coagulopathy Corrects with Resection and/or Oncologic Management

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Cytogenetics

43,XY Deletion of 1p22 and 10q24 Loss of Chromosomes 4, 11, 16 Unbalanced translocation between 11q13

and 19q13.3

What Does This Mean for This Child?

LOH at 1p and/or 16qStage 1&2 Stage 3&4

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Tumor Classification Protocol

Diagnosis, stageBiology studies

Low risk FHWT

High risk FHWT

High risk renal tumors

Stage 3 + LOH, Stage 4

CCSK, RCC, RT (all sites), Anaplastic WT

Bilateral Wilms

Stage 1, 2 Stage 3 - LOH

Includes DHPLN

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