Spontaneous hemothorax: A rare lethal pulmonary complication of neurofibromatosis type 1

Neurofibromatosis 1 (NF1), also called von Recklinghausen’s disease, is an autosomal dominant disease characterized by multiple non-cancerous tumors of nerves and skin, and areas of abnormal pigmentation. Vasculopathy and spontaneous hemothorax are rare complications, but potentially lethal, which necessitates quick and decisive intervention to save the life of the patient. Here, we present a case of spontaneous massive haemothorax leading to hemorrhagic shock in a 66-year-old woman with neurofibromatosis type-1. She was investigated and managed successfully.

Bilaterally displaced Schwalbe’s line: An unusual presentation of Axenfeld Rieger syndrome

To report a case on unusual presentation of Axenfeld Reiger (A-R) syndrome. Axenfeld Rieger syndrome commonly presents with prominent Schwalbe’s line near the limbus. Presentation with displaced Schwalbe’s line is rarely reported. We report 2 cases who presented with bilaterally displaced Schwalbe ring as strange cord like structure in anterior chamber with iris tissue adhesions. Axenfeld – Reiger syndrome is an autosomal dominant disease with ocular findings involving cornea (megalocornea), iris (iris atrophy,correctopia) and angle (anterior insertion of iris, prominent Schwalbe line). We report unsual case of detached Schwalbe’s line with iris tissue adhesions in anterior chamber A-R syndrome.

Noonan Syndrome with Plastic Bronchitis in an Adult

Noonan syndrome is an autosomal dominant disease with low incidence. The incidence of Plastic bronchitis is not well defined. In Noonan syndrome, various lymphatic abnormalities have been described. Due to these abnormalities Plastic bronchitis may develop in the patients of Noonan syndrome.

A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

Tuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.

Recurrent Ulcerations in an 84-Year-Old Male Diagnosed with Hailey-Hailey Disease

Hailey-Hailey disease (HHD), or familial benign chronic pemphigus, is a rare inherited acantholytic dermatosis. It is an autosomal dominant disease affecting the intertriginous areas. HHD has been characterized by flaccid blisters, erosions, and macerations that are limited to flexural (friction-prone) areas. The painful blisters and erosions significantly decrease patients’ quality of life. There are multiple types of therapy related to this disorder. Many of the studies have suggested benefits from steroid therapy in addition to oral antibiotics.

Genetic counselling in pre-capillary pulmonary hypertension

Pre-capillary pulmonary hypertension can be heritable in the context of pulmonary arterial hypertension (an autosomal dominant disease mainly due to mutations in BMPR2), and pulmonary veno-occlusive disease or pulmonary capillary haemangiomatosis (an autosomal recessive disease due to biallelic mutations in the EIF2AK4 gene). Genetic counselling can be implemented in referral centres for pulmonary hypertension as outlined in this chapter.

Genetic counselling in pre-capillary pulmonary hypertension

Pre-capillary pulmonary hypertension can be heritable in the context of pulmonary arterial hypertension (an autosomal dominant disease mainly due to mutations in BMPR2), and pulmonary veno-occlusive disease or pulmonary capillary haemangiomatosis (an autosomal recessive disease due to biallelic mutations in the EIF2AK4 gene). Genetic counselling can be implemented in referral centres for pulmonary hypertension as outlined in this chapter.