Familial benign pemphigus is also known as:

Widespread sclerosis of skeletal system and a tendency to fracture are seen in most of the patients. Nasal stiffness due to mastoid and paranasal sinus malformation is often the presenting feature of infantile osteopetrosis. Other deformities include macrocephaly, frontal bossing, hypertelorism, and a short nose. Continuous bone formation without resorption leads to cranial nerve compression which results in sleep apnoea and blindness due to retinal degeneration, deafness, and facial paralysis. Sclerosis of the trabecular bone replacing the medullary space often leads to deficiency of bone marrow tissue resulting in severe anaemia and pancytopenia. This triggers compensatory extra medullary haematopoiesis manifested as hepatosplenomegaly. Patients may also have a tendency of easy bruising and bleeding due to thrombocytopenia, and recurrent infection due to granulocytopenia.