Ophthalmic associations of oculodermal melanocytosis in a tertiary eye hospital in South Asia

Oculodermal melanocytosis (ODM), though rare, is associated with a number of sight-threatening complications including glaucoma. The purpose of this Case Series study was to determine the ophthalmic features in patients diagnosed with ODM. Here, we describe five patients presented with ODM, with the most common ocular features identified being hyperpigmentation of the conjunctiva, sclera and heterochromia iridis. Others included hyperpigmentation of trabecular meshwork, glaucoma, cataract, retinal detachment and ocular hypertension in one patient. As such, all patients with ODM should have a comprehensive ocular evaluation.

Oral manifestation of Waardenburg syndrome: a case report and review of the literature

Waardenburg syndrome is a rare autosomal dominant genetic disorder of neural crest cell migration. It is characterized by congenital sensorineural hearing loss, heterochromia iridis, depigmentation of hair and skin, and increased intercanthal distance. It is subdivided into four subtypes with I and II being most common. These subtypes are categorized based on genetic mutations. Although medical literature has well documented this syndrome, dental and radiographical findings have been rarely presented. In this case report and literature review, we have presented and discussed oral as well as head and neck radiology findings of a 20-year-old girl with Waardenburg syndrome.

A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report

Background We report a novel mutation within the StAR gene, causing congenital adrenal hyperplasia, with the so far unreported association with heterochromia iridis. Case presentation In a now 15-year-old girl (born at 41 + 6 weeks of gestation) adrenal failure was diagnosed in the neonatal period based on the clinical picture with spontaneous hypoglycaemia, hyponatremia and an extremely elevated concentration of ACTH (3381 pmol/l; ref. level 1,1–10,1 pmol/l), elevated renin (836 ng/l; ref. level 5–308 ng/l), and a decreased concentration of aldosterone (410 pmol/l; ref. level 886–3540 pmol/l). In addition to hyperpigmented skin the patient exhibited sectorial heterochromia iridis. Sequence analysis of the steroidogenic acute regulatory protein (StAR) gene showed a novel homozygous mutation (c.652G > A (p.Ala218Thr), which was predicted in-silico to be possibly damaging. Under daily steroid substitution her electrolyte levels are balanced while she became obese. Puberty occurred spontaneously. Conclusion A novel mutation in the StAR gene was identified in a patient with severe adrenal hypoplasia and sectorial heterochromia iridis. We discuss a causal relationship between these two rare phenotypes, i.e. whether very high levels of ACTH and alpha-MSH during early development might have disturbed early differentiation and distribution of uveal melanocytes. If confirmed in additional cases, discolorization of the iris might be considered as an additional phenotypical feature in the differential diagnosis of congenital adrenal insufficiency.

Waardenburg Syndrome: A Case Report

Waardenburg syndrome is an uncommon autosomal dominant or recessive disorder, distinguished by hypopigmentation of either skin or hairs or both, segmental, partial or complete heterochromia iridis or isohypochromia, hypertrichosis of eyebrow, synophrys, dystopia canthorum, broad and high nasal root and congenital deafness. The diagnostic criteria consist of major and minor criteria; major includes congenital sensorineural hearing loss, pigmentary abnormality in iris, segmental, partial or complete heterochromia iridis, isohypochromia, fore hair’s achromia, dystopia canthorum and affected first degree relative while minor criteria include congenital leukoderma, synophrys, broad and high nasal root, hypoplasia of nasal alae and premature graying of hair. Herein we report a case of two days old baby boy having uncommon pigmentation of hair and iris beside dystopia canthorum. He was diagnosed as a case of Waardenburg Syndrome type1 (WS1).

Birth palsy in congenital varicella syndrome: A lesson in anatomy

ABSTRACTWhile brachial plexus palsy sustained due to birth trauma is well known, congenital palsies are decidedly rare. We report such a case caused by congenital varicella syndrome, with associated congenital Horner's syndrome and heterochromia iridis. The surprising juxtaposition of a classic upper plexus palsy and a Horner's syndrome raises points of interest. Similar reports in literature are reviewed, and the genesis of a very characteristic group of findings is discussed.