Ichthyosis congenita is a rare genetic disorder that affects the skin. The spelling of this word can be tricky for non-native English speakers due to its complex phonetic transcription. The word is pronounced as /ɪkθiːˈoʊsɪs kənˈdʒɛnɪtə/ and is spelled with a combination of silent letters and unusual letter combinations such as "ch" and "th". The word is of Greek origin and means "fish-like". Early diagnosis and treatment of ichthyosis congenita is essential to control its symptoms, which include dry and scaly skin.
Ichthyosis congenita is a rare genetic disorder characterized by the presence of thick, dry, and scaly skin from birth. The term "ichthyosis" is derived from the Greek words "ichthys" meaning fish and "osis" meaning condition or disease, as the skin of affected individuals resembles fish scales.
This condition is also referred to as congenital ichthyosiform erythroderma (CIE) or lamellar ichthyosis, and it is usually inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the abnormal gene for a child to develop the disorder. The exact genetic mutations involved can vary, contributing to different clinical presentations and severity levels.
Signs and symptoms of ichthyosis congenita typically manifest at birth or shortly after, with the skin appearing thickened, dry, and covered in large, dark brown scales. In some cases, the scales may be more fine and whitish in color. Affected individuals may also experience significant skin-related complications, such as excessive loss of body heat, vulnerability to infections, itching, and limited movement due to tightness of the skin.
Treatment of ichthyosis congenita focuses on managing the symptoms, as there is no cure for the condition. A combination of regular moisturizing, keratolytic (skin-softening) agents, and avoiding triggers that worsen symptoms can help improve skin texture and reduce discomfort. Additionally, medications, such as retinoids, may be prescribed to control excessive skin cell proliferation and aid in shedding of scales. In severe cases, hospitalization may be necessary to manage complications or provide specialized care.
I. present in extreme degree at birth.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
The word "ichthyosis" originates from the Greek words "ichthys" (ἰχθύς), meaning "fish", and "osis" (ὄσις), meaning "condition" or "disease". The term "ichthyosis" was first used in the medical context by French physician René-Théophile-Hyacinthe Laënnec in the early 19th century to describe a group of skin disorders characterized by dry, scaly skin resembling fish scales.
The term "congenita" is derived from the Latin word "congenitus", which means "born with" or "present from birth". In the context of "ichthyosis congenita", it refers to the fact that this particular type of ichthyosis is present at birth.