Galen (2nd c. AD) used it to describe a progressive outgrowth, as of hair (De methodo medendi libri xiv 10.1015.6), the nails (De anatomicis administrationibus libri ix 2.337.16) of hard skin or of the tendons, the ancient physician believing that the hardness of a tissue caused its emergence (De usu partium 3.110.18, 3.111.6). Pseudo-Galen (2nd c. AD) used the term hypophysis to describe the o...

Branchio-oculo-facial syndrome (BOFS) is a rare, autosomal dominant disorder. It is characterized by distinct craniofacial abnormalities including abnormal location of the ears, aplastic cervical skin lesions, malformed auricles, conductive hearing loss, ocular abnormalities, and cleft lip and palate. Herein, we describe a case of BOFS with persistent aplasia cutis of the neck in a 5-year-old g...

This paper sketches the early history of pituitary apoplexy, a disorder later fully described in 1950 by Brougham, Heusner and Adams. Haemorrhage or necrosis in an adenoma causes a characteristic sudden drowsiness, stupor or coma, headache and stiff neck, ocular palsy, and impaired acuity with visual field loss owing to optic nerve or chiasmal compression. The associated endocrinopathy and mana...

Ring chromosome 14 syndrome is a rare genetic disorder. Typically, children with this syndrome have distinct facial features, development delay, microcephaly, seizures, ocular abnormalities, and recurrent respiratory infections. Epilepsy associated with ring chromosome 14 generally shows intractable seizures. We describe a six-month-old girl with ring chromosome 14 syndrome who presented with e...

Neurofibromatosis type 2 is a genetic disorder with autosomal dominant pattern. It can manifest as intracranial, spinal, ocular and cutaneous lesions. The lesions can extend to all the systems. We present an anaesthetic management of a paediatric patient with neurofibromatosis 2 for multiple spinal and thoracic tumour decompression.

Congenital rubella syndrome is a rare disorder with devastating ocular and systemic consequences. Although efforts to eradicate the disease have been in place for some time, some areas of the world continue to be affected by this disease. The burden of the disease weighs heavily on patients and society; therefore, vaccination and other preventative strategies should continue to be strongly enco...

Sturge-Weber syndrome is a rare nonhereditary developmental condition with neurological and skin disorder, characterized by presence of port wine stain on the face along with ocular disorders, oral manifestations and leptomeningeal angiomas. Here we present an unusual case of Sturge-Weber syndrome with osseous hypertrophy of maxilla.

Cystinosis is a rare, autosomal recessive disorder leading to defective transport of cystine out of lysosomes. Subsequent cystine crystal accumulation can occur in various tissues, including the ocular surface. This review explores the efficacy of cysteamine hydrochloride eye drops in the treatment of corneal cystine crystal accumulation and its safety profile.

Marfan's syndrome is a rare hereditary disorder characterized by skeletal, cardiovascular and ocular abnormalities. Pulmonary abnormalities occur in approximately 10% of patients the commonest being spontaneous pneumothorax and emphysema. A patient is described who had Marfan's syndrome and bronchiectasis, an association only described on 2 previous occasions in the literature.