A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.

BACKGROUND: CHILD syndrome is an X-linked dominant disorder associated with pathogenic mutations in the NSDHL gene. The condition is predominantly found in females as it is lethal in males. Most cases present at birth with extensive unilateral ichthyosiform erythroderma involving the trunk and limbs. Milder and less extensive presentations have been reported, leading to misdiagnosis especially during early childhood. METHODS AND RESULTS: We report an adult female of Malay ancestry who presented with minimal skin and limb involvement. She was only diagnosed in adulthood when she presented with gastrointestinal symptoms and worsening of skin manifestations. The clinical diagnosis was suspected after a combination of clinical, pathological and immunohistochemistry correlation, and molecularly confirmed with the discovery of a frameshift variant in NSDHL. The novel variant was inherited from her mother who had some linear hypopigmented patches over the medial aspects of both her arms and right forearm. CONCLUSION: We uncovered a novel frameshift variant associated with presentations that cast a new light on the clinical features of CHILD syndrome.

Diagnosis of a metastatic phyllodes tumor of the pancreas using EUS-FNA.

CONTEXT: Phyllodes tumors are rare fibro-epithelial lesions which make up less than 1% of all breast neoplasms. After curative surgery, distant metastases may occur without local recurrence; the typical sites of the metastases being the lungs and the bones. Endoscopic ultrasound (EUS) and EUS-guided fine needle aspiration (EUS-FNA) has emerged as the leading modalities for the evaluation of pancreatic masses. Until now, there have been no published reports on the use of EUS-FNA to diagnose recurrent phyllodes tumors metastatic to the pancreas. CASE REPORT: A 55-year-old female was hospitalized for the problem of painless obstructive jaundice due to a pancreatic head mass causing biliary obstruction. She had a past history of a left breast phyllodes tumor treated with mastectomy. The diagnostic dilemma was whether this was a case of primary pancreatic cancer or a recurrent phyllodes tumor presenting as a pancreatic metastasis. EUS-FNA of the mass was performed and it revealed a metastatic phyllodes tumor. The patient was treated with palliative biliary stenting and was referred for palliative chemotherapy. CONCLUSION: This is the first report of a recurrent phyllodes tumor metastatic to the pancreas diagnosed using EUS-FNA. It highlights the utility of EUS-FNA in characterizing the nature of pancreatic head masses.