Diseases

Hairy palms and soles

A rare inherited condition characterized by patches of hair on the palms and soles. The patches of skin associated with the hair has hair follicles and is different to the normal skin on palms and soles.

Hairy tongue

Hairy tongue, also known as black tongue, is a benign condition of elongation and staining of the fingerlike projections (papillae) on the tongue surface. This condition may be caused by overgrowth of a bacteria or yeast that produces a colored substance (pigment). Anything that reduces the flow of saliva in the mouth, such as dehydration or illness, or if the person is not eating a normal diet, can lead to the condition, which typically develops over a few weeks. Medications that commonly cause hairy tongue include antibiotics, anti-psychotics, anti-depressants, and anti-cholinergic agents. Other causes include smoking, alcohol, the use of mouthwashes, and exposure to radiation therapy.

Hajdu-Cheney syndrome

Hajdu-Cheney syndrome is an extremely rare genetic disorder of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other potential symptoms. Approximately 50 cases have been reported worldwide.

Halal syndrome

Halal syndrome: A very rare syndrome characterized mainly by a small head and a cleft palate. Halal syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Halal syndrome, or a subtype of Halal syndrome, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH) Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Halal syndrome as a "rare disease".

Halo nevi

A halo nevus is a mole that is pink or brown surrounded by an area of white or light skin. The halo is depigmented which means it has lost the normal skin pigment or color. Halo nevi are usually seen in young people. The mole portion tends to flatten and may disappear completely. The white area may stay if the mole disappears, or the normal skin color may return. Halo nevi are not dangerous or contagious, but they are sometimes a sign that something is wrong with the skin.

Hamanishi Ueba Tsuji syndrome

A very rare syndrome characterized mainly by flexion deformity of the thumb and some fingers as well as sensory disturbance in the arms.

Hamano Tsukamoto syndrome

A very rare syndrome characterized by weak eye muscles, progressive spinal cord deterioration resulting in muscle weakness and wasting.

Hand foot uterus syndrome

Hand-foot-uterus (HFU) syndrome is characterized by abnormalities of the hand, foot, urinary tract, and reproductive tract.

Hand-Schuller-Christian disease

Hand-Schuller-Christian Syndrome (HSC) is one variant of Langerhan's cell histiocytosis (LCH) which was previously known as Histiocytosis X.1 Langerhan's cell histiocytosis covers a spectrum of disorders that have been separately classified in the past as: * Eosinophilic granuloma (localised bony lesions, single or multiple) * Hand-Schuller-Christian syndrome itself (multiple bony lesions affecting the skull, associated with proptosis and hypothalamic infiltration) and * Letterer-Siwe disease (aggressive systemic variant with involvement of soft tissue only).2

Hanhart syndrome

An autosomal recessive disorder due to a deficiency in the body of the tyrosine amino transferase enzyme.

Hantavirosis

Infection by hantavirus which is a virus from the family Bunyaviridae. Infection generally causes severe febrile illness which can involve bleeding, shock and even death in some cases. The disease is transmitted by infected rodents.

Hantavirus pulmonary syndrome

Mainly occurring in the southwestern United States, but not confined to that area, Hantavirus pulmonary syndrome is a viral disease first reported in May 1993. The syndrome, which rapidly progresses from flulike symptoms to respiratory failure and, possibly, death, is known for its high mortality. The hantavirus strain that causes disease in Asia and Europe — mainly hemorrhagic fever and renal disease — is distinctly different from the one currently described in North America.

Hard skin syndrome Parana type

A rare skin disorder characterized by rigid, thick skin that covers the whole body and affects movement. Tightness of skin over the chest and abdomen can impair breathing and death can result.

HARD syndrome

A rare genetic disorder characterized by a smooth brain surface and eye, genitourinary and other abnormalities.

Hardikar syndrome

A very rare disorder characterized by obstructive liver disease, cleft lip, cleft palate, eye and urogenital abnormalities.

Harding ataxia

A rare neurological disorder primarily involving poor balance and coordination while tendon reflexes are not affected.

Harlequin ichthyosis

Harlequin ichthyosis (Harlequin baby,Harlequin-type ichthyosis,ichthyosis congenita, Ichthyosis fetalis, keratosis diffusa fetalis, Harlequin fetus, and Ichthyosis congenita gravior), is a severe genetic skin disease, which causes the dermis to be around 10 times thicker than normal and grow at an exceptionally fast rate. At birth, the child’s whole body is encased in an ‘armour’ of thick white plates of skin, separated with deep cracks. In addition, the eyes, ears, penis, and the appendages may be abnormally contracted. Because of resultant cracked skin in locations where normal skin would fold, it is easily pregnable by bacteria and other contaminants, which can result in serious risk of fatal infection. Constant care is required to moisturise and protect the skin.

Harlequin syndrome

A rare condition characterized by flushing and sweating that occurs only on one side of the face and may occur for no apparent reason or in response to such things as heat and exercise.

Hartnup disease

A rare metabolic disorder involving an error in the transport of neutral amino acid and characterized by mental retardation, rash due to light sensitivity and cerebellar ataxia.

Hashimoto-Pritzker syndrome

A rare harmless skin disorder characterized by the accumulation of histiocytes (infection-fighting cells) in the skin which forms nodules. The condition occurs at birth or soon after and resolves spontaneously within a month.

Hashimoto’s thyroiditis

Hashimoto's thyroiditis, also known as Hashimoto’s syndrome, or chronic lymphocytic thyroiditis, is an autoimmune disease in which the thyroid gland is attacked by a variety of cell- and antibody-mediated immune processes. It was the first disease to be recognized as an autoimmune disease. It was first described by the Japanese specialist Hakaru Hashimoto in Germany in 1912.

Hawkinsinuria

Hawkinsinuria, also called 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, is an autosomal dominant metabolic disorder affecting the metabolism of the sulfur amino acid hawkinsin. It is characterized by transient metabolic acidosis and tyrosinemia. Hawkinsinuria has an autosomal dominant pattern of inheritance. A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features mental retardation, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features mental retardation and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE.

Hay Wells syndrome recessive type

A rare recessively inherited genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. The recessive form of this condition is distinguished by the presence at birth of adhesions between the upper and lower jaws.