Dystrophy Pigmentosa Hereditary

Hereditary pigmentary dystrophy (DPH) is a group of genetic diseases that lead to progressive degeneration of the light-sensitive cells of the retina. This is an inherited disease that can lead to vision loss and significant limitations in patients' daily lives.

DPN usually appears in early childhood or adolescence and progresses over time. It causes damage to the retinal photoreceptors, such as cones and rods, which play an important role in sensing light and transmitting information to the brain.

The main symptoms of DPN include problems with night vision, narrowing of the field of vision (tunnel vision), difficulty with visual acuity, and poor adaptation to changes in light. Patients may also experience photophobia (sensitivity to light) and difficulty distinguishing colors.

The cause of DPH is associated with mutations in genes responsible for the normal functioning of light-sensitive cells. These genes control processes necessary to maintain the health and normal functioning of the retina. Mutations can be inherited from one or both parents, and inheritance can occur in a variety of patterns, including autosomal recessive, autosomal dominant, or sex-linked.

There is currently no complete cure for DPN. However, there are various treatment approaches aimed at slowing the progression of the disease and improving the quality of life of patients. This may include the use of devices such as special glasses or lenses that help improve vision, as well as various forms of rehabilitation and patient support.

Newer research is also exploring potential treatments for DPN, such as gene therapy and the use of stem cells to replace damaged light-sensitive cells. These methods show promise for future treatment options and the potential to slow or even stop disease progression.

Hereditary pigmentary dystrophy is a serious genetic disease that can significantly limit the visual capabilities of patients. However, modern research and treatment approaches offer hope for improving the lives of people suffering from this disease.

Hereditary dystrophic pigmentosa (HDP) is a rare inherited skin disease caused by a mutation in the _LCT (OMIM® 179140)_ or _ECT (_OMIM ® 606137) genes. The disease usually begins in childhood, although late onset can occur at any stage of life. The skin and/or underlying tissues, internal organs are affected, and other organs and tissues may not be observed. Excess pigment occurs in various parts of the body, including fingers, toes, inner lips, eyelids, abdomen, back, thighs, buttocks, genitals, and the skin around the nails.

Symptoms The main symptom of hereditary pigmentary dystrophy is an excessive amount of melanin (dark pigment) in the skin. In the early stages, pigmented areas are found under the folds of the skin, in the area of ​​the armpits, the skin of natural orifices, the popliteal cavity, and the perineum. There is the appearance of hyperpigmentation (excessive formation of melanin) of the skin of the palms and soles. Sometimes foci of pigmentation are also found on the conjunctiva of the eyes (whites), nipple skin, navel, labia minora, and mucous membranes of the genital organs in men. Later, a pigment pattern appears on the back of the nose, scalp, above the upper lip and upper jaw, scrotum in men, mammary glands in women, skin of the ear canal, and under the eyes. Over time, excess melanin darkens, scars and spots appear on the face, arms, shoulders, and behind the ears.

Excess melanin affects the pigmentation of the sweat glands, making the sweat dark and causing the sweat glands to degenerate and become less functional, which is associated with impaired protection against ultraviolet rays (one of the so-called skin phototypes: 1,2,3,4). The protective reactions of the skin can also change depending on diet. Some patients have difficulty removing pigmented material in a medical setting using dermabrasion (