CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP)

Mutation in FAM111B Causes Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

“…The phenotype of this case differs from other types of hereditary poikiloderma, such as RTS, WRN, Clericuzio-type poikiloderma with neutropaenia, and Kindler syndrome (2,(11)(12)(13). Neither did we identify potentially pathogenic mutations in specific genes, such as RECQL4 (mutated in Rothmund-Thomson syndrome), C16orf57 (mutated in Clericuzio-type poikiloderma with neutropaenia) or other genes implicated in inherited poikiloderma.…”

Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

“…No cancer has previously been described in POIKTMP2, 6; however, considering the relative young age of most patients reported to date, this does not rule out any cancer-predisposing effect of FAM111B deleterious variants occurring later in life 6 . The length bias may also have played a role, as the first case of cancer was reported in the oldest patient with a FAM111B mutation.…”

“…Several patients were initially misdiagnosed with RTS in childhood,2, 6 although the mode of inheritance is different. Differential diagnoses that must be considered in a child with poikiloderma are reviewed in Table I 2, 7, 8, 9, 10, 11…”

“…The differential diagnosis begins with a complete dermatologic examination 9 . Definite diagnosis relies on identification of a pathogenic mutation in specific genes implicated in the broad group of the inherited poikiloderma, as summarized in Table I 6 . This report shows the variability of the clinical spectrum of POIKTMP 2 .…”

Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation

“…Given the progression and the multisystemic involvement expected in POIKTMP, patient management should be undertaken by a multidisciplinary team composed notably of a dermatologist for poikiloderma follow up, mycologists, orthopedic surgeons, physiatrists for myopathy follow up, pulmonologists for evaluation of pulmonary fibrosis and geneticists for genetic counselling . The skin lesions generally improve with age, while extracutaneous manifestations, such as the musculoskeletal and respiratory systems, appear to worsen .…”