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inflammatory poikiloderma with hair abnormalities and acral keratoses
Description
Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) is a rare skin condition characterized by several distinct features.
Key Characteristics:
- Mottled hyper- and hypopigmentation: The skin exhibits patches of both lighter and darker skin tones, giving it a mottled appearance.
- Sparse scalp hair and eyelashes: Individuals with IPHAK often have thinning or sparse hair on the scalp and around the eyes.
- Sparse or absent eyebrows: Many people with this condition have little to no eyebrow hair.
- Palmoplantar keratoses: Thickened skin patches can appear on the palms of the hands and soles of the feet.
Additional Information:
IPHAK is considered an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. It is essential for individuals with IPHAK to consult with a dermatologist or other healthcare professionals for proper diagnosis and management.
References: * [1] Mottled hyper- and hypopigmentation of the skin as well as sparse scalp hair and eyelashes are key characteristics of IPHAK. * [2] Individuals with IPHAK often have sparse or absent eyebrows. * [3] Palmoplantar keratoses can appear on the palms of the hands and soles of the feet in people with this condition. * [5] Inflammatory poikiloderma with hair abnormalities and acral keratoses is a rare skin disease characterized by mottled hyper- and hypopigmentation, sparse scalp hair and eyelashes, and palmoplantar keratoses.
Additional Characteristics
- Mottled hyper- and hypopigmentation
- Sparse scalp hair and eyelashes
- Sparse or absent eyebrows
- Palmoplantar keratoses
Signs and Symptoms
Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) is a rare skin condition characterized by several distinct signs and symptoms. Some of the key features of IPHAK include:
- Mottled hyper- and hypopigmentation: The skin exhibits patches of discoloration, with areas of lighter and darker skin tone.
- Sparse scalp hair and eyelashes: Many individuals with IPHAK experience thinning or loss of hair on the scalp and around the eyes.
- Sparse or absent eyebrows: Some people with IPHAK may have sparse or missing eyebrows.
- Acral keratoses: Small, rough patches of skin can appear on the hands and feet.
- Thin erythematous plaques: Thin, red patches of skin can be present on the body.
- Fine, greasy scale: A fine, oily scale may be visible on the skin.
- Pruritus: Itching is a common symptom of IPHAK, and in some cases, it can be severe.
These signs and symptoms can vary in severity and presentation from person to person. The condition is often characterized by its distinctive mottled pigmentation pattern, which can be a key diagnostic feature.
References:
- [1] Mottled hyper- and hypopigmentation of the skin as well as sparse scalp hair and eyelashes are characteristic features of IPHAK.
- [2] Acral keratoses, thin erythematous plaques, and fine, greasy scale can also be present in individuals with IPHAK.
- [3] Pruritus is a common symptom of IPHAK, which can range from mild to severe.
Additional Symptoms
- Pruritus
- Mottled hyper- and hypopigmentation
- Sparse scalp hair and eyelashes
- Sparse or absent eyebrows
- Acral keratoses
- Thin erythematous plaques
- Fine, greasy scale
Diagnostic Tests
Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) is a rare genetic disorder that affects the skin and hair. Diagnostic testing for IPHAK typically involves genetic analysis to identify mutations in the ribosome biogenesis factor gene LTV1, which are linked to this condition [6].
According to search results, genetic analysis is diagnostic for IPHAK, indicating that it is the most reliable method for confirming a diagnosis of this condition [4]. Additionally, a panel used for clinical indication 'R332 Rare genetic inflammatory skin disorders' in the NHS Genomic Medicine Service may also be relevant for testing and diagnosing IPHAK [9].
It's worth noting that while diagnostic testing for IPHAK is primarily focused on genetic analysis, other tests such as serum radioallergosorbent testing (RAST) or skin prick testing may be used to rule out other conditions that present with similar symptoms [10]. However, these tests are not specific to IPHAK and should be used in conjunction with genetic analysis for a definitive diagnosis.
Diagnostic Tests for IPHAK:
- Genetic analysis to identify mutations in the ribosome biogenesis factor gene LTV1
- Panel used for clinical indication 'R332 Rare genetic inflammatory skin disorders' in the NHS Genomic Medicine Service
- Serum radioallergosorbent testing (RAST) or skin prick testing to rule out other conditions
References:
[4] - Search result 5 [6] - Search result 6 [9] - Search result 9 [10] - Search result 10
Additional Diagnostic Tests
- Genetic analysis to identify mutations in the ribosome biogenesis factor gene LTV1
- Panel used for clinical indication 'R332 Rare genetic inflammatory skin disorders' in the NHS Genomic Medicine Service
- Serum radioallergosorbent testing (RAST) or skin prick testing
Treatment
Treatment Options for Inflammatory Poikiloderma with Hair Abnormalities and Acral Keratoses (IPHAK)
Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) is a rare skin disorder that requires careful management. While there is no cure, various treatment options can help alleviate symptoms and improve quality of life.
- Elimination of known causes: The first step in treating IPHAK is to identify and eliminate any underlying causes, such as allergies or sensitivities.
- Antihistamines and corticosteroids: Antihistamines (H1 and H2 blockers) can help reduce itching and inflammation, while oral corticosteroids may be used for acute flares. [4]
- Topical and systemic antibiotics: Infected bullous lesions may require topical or systemic antibiotics to reduce morbidity.
- Acitretin therapy: Acitretin alone has been used in some cases, with a combination of 40% salicylic acid ointment producing good results in one patient. [3]
- Placebo-controlled studies: Further research is needed to determine the efficacy and safety of various treatments for IPHAK.
It's essential to note that treatment should be tailored to individual patients, taking into account their specific symptoms and medical history. Proper counseling and symptomatic management are also crucial in managing IPHAK. [5]
References:
- Combination therapy with 40% salicylic acid ointment and oral acitretin produced good results in one patient. [3]
- Acitretin alone has also been used. [587]
- Topical and systemic antibiotics may be used for infected bullous lesions to reduce morbidity. [5]
- Proper counseling and symptomatic management are essential to manage IPHAK. [5]
Recommended Medications
- Antihistamines
- Cortosteroids
- Topical antibiotics
- Systemic antibiotics
- Acitretin therapy
- 40% salicylic acid ointment
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis for Inflammatory Poikiloderma with Hair Abnormalities and Acral Keratoses (IPHAK) includes several conditions that present with similar skin manifestations. Some of these conditions are:
- Kindler syndrome: A rare subtype of inherited epidermolysis bullosa, characterized by skin fragility and acral blister formation [2].
- SLE (Systemic Lupus Erythematosus): An autoimmune disease that can cause a range of symptoms, including skin manifestations such as mottled hyper- and hypopigmentation [1].
- Contact or allergic dermatitis: A type of skin reaction caused by exposure to allergens or irritants, which can present with similar skin lesions to IPHAK.
- Seborrheic dermatitis: A common skin condition characterized by a scaly, itchy rash, often on the face and scalp [3].
- Scleroderma: An autoimmune disease that affects the skin and other organs, causing thickening and hardening of the skin [3].
- Photosensitivity reactions: Skin reactions caused by exposure to sunlight or other forms of radiation.
- Trichinosis: A parasitic infection that can cause a range of symptoms, including skin manifestations [3].
- Confluent and reticulated papillomatosis of Gougerot and Carteaud: A rare genetic disorder characterized by the growth of multiple small bumps on the skin.
- Dowling-Degos disease: A rare genetic disorder that causes a distinctive pattern of skin lesions, often accompanied by hair abnormalities.
It's worth noting that IPHAK is a rare condition, and its differential diagnosis can be complex. A thorough medical evaluation and diagnostic workup are necessary to accurately diagnose this condition [1].
References: [1] - Context result 1 [2] - Context result 2 [3] - Context results 3, 6, 7
Additional Differential Diagnoses
- Confluent and reticulated papillomatosis of Gougerot and Carteaud
- Dowling-Degos disease
- Kindler syndrome
- allergic contact dermatitis
- photosensitivity disease
- scleroderma
- seborrheic dermatitis
- systemic lupus erythematosus
- trichinosis
Additional Information
- owl#annotatedSource
- t349676
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0070510
- core#notation
- DOID:0070510
- oboInOwl#hasDbXref
- UMLS_CUI:C5774293
- core#exactMatch
- UMLS_CUI:C5774293
- IAO_0000115
- A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2.
- rdf-schema#label
- inflammatory poikiloderma with hair abnormalities and acral keratoses
- oboInOwl#hasExactSynonym
- LIPHAK syndrome
- rdf-schema#subClassOf
- t349757
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.