Diseases

Hypothalamic hamartomas

Hypothalamic hamartoma (abbreviated as HH) is a congenital condition consisting of a mass of disorganized neuronal or glial tissue on or near the hypothalamus. HH is generally not detected on CT scans, and on MRI it is isointense to gray matter. The size of HHs varies from less than 1 cm to more than 3 cm.

Hypothalamic Obesity

Hypothalamic obesity (HyOb) is a complicated medical condition. It can happen from the growth of rare brain tumors. It can also happen from other types of injury to the hypothalamus. Craniopharyngioma (krā’nē-ō-fə-rĭn’jē-ō’ma) is one of the tumors that can cause HyOb.

When the hypothalamus is injured, the brain and the gut have a hard time understanding each other’s signals. The brain cannot “hear” the messages from the body fat, trying to tell the brain to turn off hunger. This mix up in the brain leaves the person always feeling hungry. Because the person is hungry, they will eat more and more. The body will store the extra energy from the food as fat. This can cause one to two pounds of weight gain a week.

As more and more weight is gained, the body begins to store fat in places that it usually does not, like muscles, the liver, and in and around other important organs in the belly. This can make it hard for these important organs to work right and it can harm the person’s health.

Hypothyroidism due to iodide transport defect

Hypothyroidism due to iodide transport defect: Low thyroid hormone levels in infants due to abnormal iodide transport in the body caused by a genetic defect. The severity of the condition varies depending on the extent of the defect and the length of time taken to diagnose the condition. Symptoms tend to become worse, the longer the condition is undiagnosed

Hypotonic sclerotic muscular dystrophy

Hypotonic sclerotic muscular dystrophy: A very rare inherited disorder involving abnormalities of various body systems. It is a variation of Ullrich's disease. The contractures that develop progress rapidly.

Hypoxanthine guanine phosphoribosyltransferase deficiency

The genetic basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency has been identified by nucleotide sequence analysis of HPRT cDNAs cloned from a patient with gout. A single nucleotide change was identified in two independent clones: an A to G transition at nucleotide 602. Confirmation of a mutation at this site was provided by RNase mapping analysis

IBIDS syndrome

BIDS syndrome: A rare inherited skin disorder characterized by red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as PIBIDS syndrome but doesn't involve photosensitivity.

ICF syndrome

ICF syndrome: A very rare, recessively inherited syndrome characterized mainly by a weak immune system and facial anomalies.

Ichthyosis hystrix- Curth Macklin type

Ichthyosis hystrix, Curth Macklin type: A rare inherited skin disorder involving variable degrees of scaling, thickening and hardening of the skin which can occur anywhere on the body.

Ichthyosis linearis circumflexa

Ichthyosis linearis circumflexa is a distinctive skin condition of generalized hyperkeratosis and polycyclic and serpiginous erthematous plaques with a characteristic, migratory, double-edged scale at the margins, and is the typical cutaneous manifestation of Netherton's syndrome

Ichthyosis male hypogonadism

Ichthyosis and male hypogonadism: A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads

Ichthyosis microphthalmos

Ichthyosis refers to a relatively uncommon group of skin disorders characterized by the presence of excessive amounts of dry surface scales. It is regarded as a disorder of keratinization or cornification, and it is due to abnormal epidermal differentiation or metabolism. The ichthyosiform dermatoses may be classified according to clinical manifestations, genetic presentation, and histologic findings. Inherited and acquired forms of ichthyosis have been described, and ocular alterations may occur in specific subtypes. Five distinct types of inherited ichthyosis exist, as follows: ichthyosis vulgaris, lamellar ichthyosis, epidermolytic hyperkeratosis, congenital ichthyosiform erythroderma, and X-linked ichthyosis.

Ichthyosis prematurity syndrome

Ichthyosis prematurity syndrome: A very rare syndrome characterized mainly by premature birth with a thick layer of skin that peels to leave dry, scaly, thickened skin.

Ichthyosis tapered fingers midline groove up

Ichthyosis tapered fingers midline groove up is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Ichthyosis tapered fingers midline groove up, or a subtype of Ichthyosis tapered fingers midline groove up, affects less than 200,000 people in the US population.

Ichthyosis vulgaris

Sometimes called fish scale disease or fishskin disease, ichthyosis vulgaris is an inherited skin disorder that causes dead skin cells to accumulate in thick, dry scales on the skin's surface. These scales can be present at birth, but usually first appear in early childhood. Sometimes ichthyosis vulgaris disappears entirely for most of the adult years, only to return later. Though most cases are mild, some cases of ichthyosis vulgaris are severe. No cure has been found and treatments are directed at controlling the signs and symptoms.

Ichthyosis- keratosis follicularis spinulosa decalvans

Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin disorder that affects men predominately and is characterized by hardening of the skin (keratosis) in several parts of the body. Most frequently, the face, neck, and forearms are involved. The thickening of the skin is accompanied by the loss of eyebrows, eyelashes and beard. Baldness (alopecia) usually occurs.

Idiopathic acute eosinophilic pneumonia

Eosinophilic pneumonia (EP) is a disease in which a certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. Several different kinds of eosinophilic pneumonia exist and can occur in any age group. The most common symptoms include cough, fever, difficulty breathing, and sweating at night. EP is diagnosed by a combination of characteristic symptoms, findings on a physical examination by a health provider, and the results of blood tests and x-rays. Prognosis is excellent once most EP is recognized and treatment with corticosteroids is begun

Idiopathic atypical mycobacterial infection

Atypical mycobacteria are a group of bacteria that are widely distributed in nature. They can be found in water, soil, animals and man, usually without evidence of disease.