Differential Diagnosis

Molecular & Cytogenetics:

· Infertility

· Multiple Miscarriages

· Short Stature

· Developmental Delay

· XY female

· XX male

· Low mitotic index

Immunostains:

• CK7+ / CK20-
• c-kit +
• Small round blue cell tumour panel

Oral:

• Buccal Mucosa Nodule

Thorax:

• Pneumonia
• Diffuse Pulmonary Hemorrhage Syndromes
• Sclerosing Mediastinal Mass
• Pleural lesion
• Diffuse constrictive bronchiolitis (obliterative bronchiolitis)
• Cystic lesions in neonates and children

Lung:

Luminal GI:

• Spindle Cell Tumour in GI Tract
• Pseudomyxoma Peritonei
• Appendix lesion

Liver:

• Steatosis
• Bile duct obstruction
• Hemosiderosis
• Massive hepatic necrosis
• Cirrhosis
• Granulomas in Liver
• Neonatal cholestasis
• Paucity of intrahepatic bile ducts in children

Adrenals:

· Adrenal insufficiency

Skin:

• Spongiotic Dermatitis
• Interface Dermatitis
• Psoriasiform Dermatitis
• Intraepidermal Vesicular and Pustular Dermatitis
• Subepidermal Vesicular Dermatitis
• Neutrophilic Dermatoses
• Invisible Dermatoses
• Panniculitis
• Cutaneous Manifestations of inflammatory bowel disease
• Basal Cell Carcinoma DDx

Hematologic:

• Eosinophilia
• Red Cell Agglutinates
• Paracortical Hyperplasia
• Hypercoagulable state

Forensics:

• Sudden Natural Death