Congenital poikilodermia is not a disease entity, but a disease picture consisting of a triad of symptoms such as skin atrophy, reticular discoloration and telangiectasia. What are the causes and symptoms of poikilodermia? How is the treatment going?
Poikilodermiadevelops on the background of contact reactions, connective tissue diseases, proliferative diseases of the lymphatic system or as a result of exposure to X-rays. It also occurs in the course of genetically determined syndromes as congenital poikilodermia (syndrome Rothmund-Thomson, congenital dyskeratosis, Fanconi anemia, Kindler's syndrome, blistering poikilodermia, hereditary acrokeratotic poikiloderma, hereditary sclerosing poikiloderma, poikilodermia accompanied by neutropenia).
Congenital Poikilodermie
- Rothmund-Thomson syndrome
This is a very rare congenital poikilodermia, with approximately 300 cases reported worldwide. Women are sick more often than men. The inherited disease is autosomal recessive, and the defect concerns the gene encoding the enzyme - DNA helicase.
The first symptom is cheek erythema with a reticular pattern, which appears in the first year of life. Gradually, the range of changes covers more and more areas of the skin - ears, chin, forehead, limbs and buttocks. The torso usually remains symptom free. Additionally, hypersensitivity to sunlight may occur, and in some patients, keratosis foci may develop on the distal parts of the limbs, which may transform into squamous and basal cell carcinomas. Interestingly, both hair, sebaceous glands and sweat glands may be reduced in number or absent altogether. All patients are short in stature and about half of them have cataracts that appear in early childhood. Other patient abnormalities include hypogonadism, arched tibia, small hands and feet, hypoplastic thumbs, and dental defects. Characteristically, there is an increased risk of developing bone sarcoma. Intelligence is normal. In cases not complicated by malignancy, the survival time is normal. Treatment is limited to the use of sunscreen and regular checkups with imaging tests to detect osteosarcoma.
- Congenital dyskeratosis
This is a very rare disease,inherited in most cases in an X-linked manner. The defect relates to a mutation in the dyskerin, a nuclear protein essential for ribosomal RNA synthesis and telomerase function. Telomerase defects have a negative effect on the lifetime of cells, as it is shortened.
The disease is differentiated from Fanconi anemia, which is characterized by blotchy hyperpigmentation and similar changes in the bone marrow.
Symptoms are limited to the skin and mucous membranes. Almost all patients are characterized by dark, brown-gray, reticular hyperpigmentation accompanied by skin atrophy and telangiectasia. These changes usually start in childhood and most often affect the face, torso, and thighs. There is constant watery eyes as a result of chronic inflammation of the conjunctiva and eyelids. The tear duct is often hypoplastic. The nails are initially hypertrophic, then they become dystrophic. Finally, there is a pterygium-like atrophy. Characteristic are thinning hair, excessive sweating of the skin under the armpits and mild keratosis of the hands and soles of the feet. Diffuse hyperkeratotic foci occur in the mucous membranes of the mouth, genitals and anus, transforming into squamous cell carcinoma at a young age. Fanconi-type pancytopenia is present in half of the patients. Due to the presence of mucosal squamous cell carcinomas and the risk of bone marrow aplasia, the prognosis is poor. Some patients undergo bone marrow transplantation.
- Fanconi Anemia
Fanconi anemia occurs at a frequency of 1: 300,000 and is inherited in an autosomal recessive manner. It is caused by a mutation in various DNA repair genes.
Characteristic symptoms include pancytopenia, kidney defects, skeletal abnormalities, mental retardation, and growth failure. Skin lesions include diffuse hyperpigmentation, focal hypopigmentation, and coffee-milk-type spots. Within the folds of the skin, the skin is dark in color.
Patients are at increased risk of developing malignant neoplasms, especially acute myeloid leukemia.
The prognosis is poor due to the significantly increased risk of acute myeloid leukemia and the risk of developing squamous cell carcinomas (mainly in the head, neck and perianal area). Bone marrow transplantation is the treatment of choice.
- Kindler's syndrome
It belongs to the epidermal blistering family and is inheritedautosomal recessive. The defect relates to a mutation in the KIND1 gene encoding kindlin-1, which results in abnormal focal adherence and damage to the attachment of the actin cytoskeleton to the plasma membrane in the basal layer keratinocytes. As a result, the polarity and adhesion of keratinocytes to the basement membrane are disturbed.
The disease evolves from inborn blistering and mild sun sensitivity to generalized poikilodermia in adulthood.
The disease is manifested by an inborn blistering of the skin that disappears with age. There is mild hypersensitivity to the sun and an early, generalized, progressive poikilodermia with extensive atrophy. There may be keratinization of the hands and feet and nail abnormalities, as well as contracture and adhesion of the fingers. Due to atrophy and dryness, the skin of patients appears prematurely aged. Additionally, there may be sensitivity of the gums, poor dentition, and early, rapidly progressive periodontitis. The mucous membranes of the urethra, anus, esophagus and genitals may be affected, leading to the formation of strictures within them.
The prognosis is good, but you should be aware of the increased risk of squamous cell carcinoma of the skin or mucous membranes.
- Hereditary Acrokeratotic Poikiloderma (Poikilodermia with keratosis)
This is a group of autosomal dominant diseases. The early inflammatory phase is characteristic, with initial erythema of distal parts of the body and blisters, followed by involvement of the flexion areas. The skin of the distal area is atrophic with numerous papillary lumps that may persist for a long time and additionally affect the knees and elbows. In some families, post-kylodermic changes are described as primary on the face, and in others as flexion. The patients are he althy, without cataracts, mental retardation or hypogonadism.
- Hereditary Sclersosing Poikiloderma
Inherited autosomal dominant. The symptoms of the disease begin in childhood. It is characterized by hardening and atrophy of the distal skin, accompanied by diffuse hypo and hyperpigmentation. There are no telangiectasias. There may be hyperkeratotic or hardened bands in the flexion areas.
Some patients may have mandiboacral dysplasia, with mandibular hypoplasia, dysplastic collarbones, non-closure of cranial sutures, shortening of the phalanges and skin atrophy of distal parts, and poikiloderma.
- Poikiloderma with accompanying neutropenia (Poikilodermia of the Navajo Indians)
It is inherited in an autosomal recessive manner. Apart from neutropenia, characteristic is the appearance of papular rash of distal parts, which transforms into discoloration and discoloration spreading centrally. Patients show thickened nails (pachyonychia) and recurrent pulmonary infections. May be confused with Rothmund-Thomson syndrome. Similar diseases have been found in other non-indigenous people of America.