Cysts of the oesophagus are unusual findings and they are classified according to the embryological site of origin. It may represent inclusion cysts, retention cysts and developmental cysts. We present a case of keratinous inclusion cyst of the lower oesophagus in a 71-year-old Malay woman who presented with dyspepsia and severe epigastric pain. An oesophago-gastro-duodenoscopy demonstrated a sliding hiatus hernia with whitish ulcer-like lesion at the lower oesophagus. Biopsy from the lesion revealed a keratinous inclusion cyst. The patient was given pantoprazole and put on regular follow-up for monitoring any other development.
Oral-facial-digital syndrome type 1 (OMIM #311200) is an X-linked dominant, developmental disorder. Among the 13 described clinical variants of oral-facial-digital syndrome, oral-facial-digital syndrome type 1 is of significance to dermatologists due to presence of congenital milia and hypotrichosis, not described in other variants. Since oral-facial-digital syndrome type 1 is genetically a distinct entity, awareness of these features help to clinically delineate this from other variants.
The differential diagnosis of a cystic lesion in the submandibular area can be difficult. We report a case of epidermal cyst of submandibular gland which is relatively rare compared to the commoner epidermoid cyst.
An 86-year-old man presented with a painless, pea-sized growth over the left angle of his jaw, which had been gradually enlarging over two years. A clinical diagnosis of pilar cyst was made. Histopathological examination of the mass revealed a malignant proliferating trichilemmal tumour. During follow-up 4 months later, a palpable small upper jugular lymph node was noted at the left side of the neck. Biopsy revealed a metastatic malignant trichilemmal tumour. This case illustrates a rare malignant tumour which is a challenge to clinical diagnosis.
Epidermal inclusion cyst (EIC) arising from the breast is an uncommon benign condition. We report two cases of enlarging EIC of the breast in two women in their forties. The diagnosis of this condition may not be straightforward with imaging alone if an EIC presents as an enlarging lump in the breast and mimics a benign breast lesion, most commonly a fibroadenoma or malignant lesion with benign imaging features. Excision is usually recommended for a definite histopathological diagnosis and for the prevention of potential risks of malignant transformation. Asymptomatic stable lesions do not require treatment; biopsy is unnecessary, and follow-up imaging suffices if typical sonographic and clinical findings are found.
Metastatic eyelid tumours are rare and account for less than 2% of all eyelid neoplasms. We report a case of metastatic breast carcinoma to the eyelid in a 60-year-old Chinese lady presenting with a 2-year history of enlarging, painless nodular lower eyelid swelling. The 1 cm diameter lesion was provisionally diagnosed as a sebaceous cyst. However the excision biopsy revealed a mucinous carcinoma expressing oestrogen receptor protein. She had a past history of mastectomy one year previously and histology showed an infiltrating ductal carcinoma (oestrogen receptor status negative) without evidence of axillary lymph node metastasis. She had completed adjuvant radio- and chemotherapy. Further treatment of the current lesion involved a wide excision which did not show any residual malignancy. She had no other evidence of metastasis and was treated with letrozol. We highlight this case to create awareness among clinicians and opthalmologists on the possibility of metastatic disease as a cause of eyelid swelling, especially in patients with a history of cancer. It may also be the first sign of metastatic disease of an internal malignancy. A review of the literature is also presented.