Condition Lookup
Category:
Genetic Skin Disorders
Number of Conditions: 5
Ichthyosis Vulgaris
Specialty: Dermatology
Category: Genetic Skin Disorders
Sub-category: Ichthyosis (Dry, Scaly Skin)
Symptoms:
dry, scaly skin; fine, white or gray scales on arms, legs, or trunk; thickened palms and soles; worsens in cold, dry weather
Root Cause:
Mutation in the FLG gene affecting filaggrin production, leading to impaired skin barrier and moisture retention.
How it's Diagnosed: videos
Clinical examination; family history and genetic testing for confirmation.
Treatment:
Emollients, keratolytics, and topical retinoids to improve hydration and reduce scaling.
Medications:
Urea-based or lactic acid-based moisturizers – to soften scales. Topical retinoids – for severe cases.
Prevalence:
How common the health condition is within a specific population.
Affects about 1 in 250 individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, atopic dermatitis.
Prognosis:
The expected outcome or course of the condition over time.
Lifelong condition; manageable with regular treatment.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Skin infections due to barrier dysfunction; Psychological distress
Lamellar Ichthyosis
Specialty: Dermatology
Category: Genetic Skin Disorders
Sub-category: Ichthyosis (Dry, Scaly Skin)
Symptoms:
large, dark, plate-like scales; tightness of skin; ectropion (eyelid eversion); palmar and plantar thickening
Root Cause:
Mutations in genes like TGM1, leading to defective lipid metabolism and impaired skin barrier.
How it's Diagnosed: videos
Clinical examination; genetic testing for confirmation.
Treatment:
Emollients, keratolytics, and systemic retinoids for severe cases.
Medications:
Urea-based or lactic acid-based moisturizers – to reduce scaling. Oral retinoids (e.g., acitretin ) – for severe cases.
Prevalence:
How common the health condition is within a specific population.
Rare, about 1 in 100,000 individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal recessive inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Chronic but manageable with consistent treatment.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Infections; Ectropion; Overheating due to impaired sweating
Xeroderma Pigmentosum
Specialty: Dermatology
Category: Genetic Skin Disorders
Symptoms:
extreme sensitivity to sunlight; freckling and pigmentation changes; premature skin aging; high risk of skin cancer
Root Cause:
Defective DNA repair mechanisms after UV-induced damage.
How it's Diagnosed: videos
Clinical features, DNA repair studies, and genetic testing.
Treatment:
Strict UV protection, regular skin examinations, and removal of precancerous lesions.
Medications:
Topical sunscreens – to block UV radiation. Retinoids – to reduce precancerous lesions.
Prevalence:
How common the health condition is within a specific population.
Rare, about 1 in 1 million individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal recessive inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Poor without rigorous UV protection; high risk of early skin cancers.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Skin cancers; Blindness; Neurological deterioration
Neurofibromatosis
Specialty: Dermatology
Category: Genetic Skin Disorders
Symptoms:
café-au-lait spots; neurofibromas; axillary freckling; lisch nodules in the eyes
Root Cause:
Mutations in NF1 or NF2 genes causing abnormal cell growth in nerves and skin.
How it's Diagnosed: videos
Clinical examination; genetic testing for confirmation.
Treatment:
Monitoring for complications; surgical removal of symptomatic tumors.
Medications:
None specific; treatment focuses on managing symptoms.
Prevalence:
How common the health condition is within a specific population.
Affects about 1 in 3,000 individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Variable; complications can affect quality of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Learning disabilities; Malignant transformation of neurofibromas
Darier Disease
Specialty: Dermatology
Category: Genetic Skin Disorders
Symptoms:
greasy, wart-like plaques on seborrheic areas; nail abnormalities (e.g., v-shaped notches); foul-smelling lesions in intertriginous areas
Root Cause:
Mutation in the ATP2A2 gene affecting calcium regulation in keratinocytes.
How it's Diagnosed: videos
Clinical examination, family history, and biopsy.
Treatment:
Topical therapies, systemic retinoids for severe cases, and hygiene to prevent secondary infections.
Medications:
Topical corticosteroids – for inflammation. Oral retinoids (e.g., acitretin ) – for severe cases.
Prevalence:
How common the health condition is within a specific population.
Rare, about 1 in 50,000 individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Chronic but manageable with treatment.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Secondary infections; Psychological distress due to cosmetic concerns