Frey syndrome is a rare disorder that most often occurs as a result of surgery in the area near the parotid glands. The parotid glands are the largest salivary glands in the body located just below the ears on either side of the face. The main symptoms of Frey syndrome are undesirable sweating and flushing occurring on the cheek, temple (temporal region), or behind the ears (retroauricular region) after eating certain foods, especially those t  Read More

Harlequin syndrome is a rare disorder of the autonomic nervous system. The blockage results in hemifacial discoloration, sharply demarcated at the midline. It is a self resolutive disease.Treatment/ managementThough Harlequin syndrome may not need treatment, in cases where the individual may feel socially embarrassed, contralateral sympathectomy may be considered.In this treatment, the nerve bu  Read More

Rapp-Hodgkin syndrome, an extremely rare inherited multisystem disorder that is apparent at birth (congenital) or during infancy, belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the skin, teeth, hair, and/or nails. Rapp-Hodgkin syndrome is characterized by a reduced ability to sweat (hypohidrosis); an incomplete closure of the roof of the mouth (cleft palate) and/or an abnormal groove in th  Read More

Enzyme replacement may be effective in slowing the progression of the disease. The pain in the hands and feet usually responds to anticonvulsants such as phenytoin (Dilantin) and carbamazepine (Tegretol, Tegretol XR , Equetro, Carbatrol). Gastrointestinal hyperactivity may be treated with metoclopramide (Reglan, Octamide, Maxolon). Some individuals may require dialysis or kidney transplantation.    Read More

Focal dermal hypoplasia (FDH), commonly known as Goltz syndrome, primarily affects the development of the skin, hands, feet, and eyes. It is considered one of the Ectodermal dysplasia types, which is a sort of heritable condition that affects how the hair, teeth, nails, and glands develop and work. About 90% of all FDH cases are female, according to statistics.Numerous bone abnormalities, some of which may be prese  Read More

A skin condition that occurs in sweat-producing areas is known as Fox Fordyce Disease. It is a rare condition that mainly occurs in women between the age of 13 to 35 years. Areas affected by the disease have itchy bumps produced around the hair follicles of the underarm, nipples, and other pubic regions.The ratio of women to men with the disease is more due to sweat accumulation and bacterial production. It is due  Read More

Fabry disease is a rare genetic disorder of fat (lipid) metabolism characterized by a deficiency of the enzyme alpha-galactosidase A (previously known as ceramide trihexosidase). The disorder belongs to a group of diseases known as lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular compounds and intracellular structures. Alpha-galactosidase funct  Read More

Harley syndrome or Harlequin syndrome is a rare dysautonomic syndrome caused by the unilateral blockade of the T2-T3 fibers carrying sudomotor and vasomotor supply to the face.The autonomic nervous system is responsible for regulating the natural processes of the body, including sweating, skin flushing, and the response of the pupils to any stimuli. The exact cause of the condition is not found yet.The sym  Read More

A hereditary skin condition known as epidermolysis ichthyosis (EI) is distinguished by different degrees of blistering and subsequent reactive scaling of the skin. Mid-epidermal splitting and hyperkeratosis, often known as epidermolytic hyperkeratosis, are present in the underlying histology (EHK). The symptoms might range from minor burning upon friction to severe erosions or widespread warty scaling, depending on the kind of  Read More

Medications or treatment for infantile sleep apnea will be decided by the doctor depending on the symptoms and their severity.Infants with sleep apnea can require breathing help from a machine or additional oxygen therapy. They might also require pharmaceutical therapy. These are all typically temporary solutions.Infant sleep apnea typically disappears as the child becomes older and more developed. By 40 w  Read More

Localized Epidermolysis bullosa simplex (EBS) is a genetic disease, which means that it is caused by one or more genes not working correctly.The majority of EBS subtypes are inherited in a dominant manner. This means that an affected parent passes them on to half of his or her offspring. EBS affects both men and women equally.Epidermolysis bullosa simplex is often transmitted in an autosomal dominant manne  Read More

Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers, thickening of the skin of the face (pachyderma), and excessive sweating (hyperhidrosis). It typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years.Specific symptoms include enlargement of the fingers and toes (clubbing), a condition in which there is a fibrous covering on the end  Read More