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Ichthyosis Hystrix Type Curth-Macklin


Presentation

  • present in normal foetal skin (PKK1), and Mabsagainst keratins 1, 2, 10 and 11 (KA5 and K8.60) were used in the immunohisto-chemical study.[docslide.net]
  • Patients may present at birth or there may be a delayed onset in infancy or childhood, as seen in our patient.[ncbi.nlm.nih.gov]
  • Nail dystrophy may be present. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present.[orpha.net]
Gangrene
  • In severe cases, PPK can also lead to contractures , gangrene and loss of digits. The skin is malodorous and frequently infected. Nail dystrophy may be present.[rarediseases.info.nih.gov]
Physician
  • This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
  • NORD recommends that affected individuals seek the advice or counsel of their own personal physicians. It is possible that the title of this topic is not the name you selected.[healthmedicinet.com]
  • Genetic counselors are non-physician members of the medical team who specialize in family risk assessment.[wikivisually.com]
  • Department of Dermatology, College of Physicians and Surgeons Columbia University New York 2. New York Blood Center New York 3. Universitäts-Hautklinik Heidelberg Germany[link.springer.com]
Lymphadenopathy
  • Progression produces nontender lymphadenopathy. Parapsoriasis (chronic) Parapsoriasis produces small or moderate-sized maculopapular, erythematous eruptions, with a thin, adherent scale on the trunk, hands, and feet.[checkorphan.org]
  • […] lobar emphysema Charcot-Marie-Tooth disease Sequeiros Sack syndrome Orofaciodigital syndrome 4 Arterial tortuosity syndrome DPAGT1-CDG (CDG-Ij) Le Marec Bracq Picaud syndrome Primary hyperoxaluria type 1 Congenital erythropoietic porphyria Histiocytosis-lymphadenopathy[checkrare.com]
Weight Loss
  • Other signs and symptoms include a fever, fatigue, weight loss, malaise, and hepatosplenomegaly. Non-Hodgkin’s lymphoma initially produces erythematous patches with some scaling that later become interspersed with nodules.[checkorphan.org]
Malaise
  • Other signs and symptoms include a fever, fatigue, weight loss, malaise, and hepatosplenomegaly. Non-Hodgkin’s lymphoma initially produces erythematous patches with some scaling that later become interspersed with nodules.[checkorphan.org]
Skin Lesion
  • Diagnostic methods Diagnosis is based on clinical examination and on histological examination of skin lesion biopsies revealing papillomatous hyperplasia with hyperorthokeratosis and hypergranulosis.[rarediseases.info.nih.gov]
Partial Alopecia
  • Partial alopecia was present in four and mild erythrodermiain six. Currently, eight patients are on etretinate therapy with a moderate to goodresponse. Light and electron microscopy was performed inall cases.[docslide.net]
Nummular Dermatitis
  • With nummular dermatitis, round, pustular lesions commonly ooze purulent exudate, itch severely, and rapidly become encrusted and scaly. Lesions appear on the extensor surfaces of the limbs, posterior trunk, and buttocks.[checkorphan.org]
Scaly Rash
  • Lymphoma Hodgkin’s disease and non-Hodgkin’s lymphoma commonly cause scaly rashes. Hodgkin’s disease may cause pruritic scaling dermatitis that begins in the legs and spreads to the entire body. Remissions and recurrences are common.[checkorphan.org]
Low Self-Esteem
  • People with this condition sometimes feel depressed and have low self-esteem.[webmd.com]
Dysesthesia
  • […] cutaneous diseases Arne Kanig and Rudolf Happle Ichthyoses erythrokeratodermas and related disorders Keratodermas Kro Dariers disease and HaileyHailey disease Daniel Hohl Theodora Mauro and leanPhilippe Gorog Mosaicism and linear lesions Pruritus and dysesthesia[books.google.com]

Treatment

  • Etretinate treatment proved beneficial during the first year of therapy. Later the treatment was less effective.[jamanetwork.com]
  • Treatments It can't be cured, but treatments can help you manage dry and scaly skin. Continued Rub cream, lotion, or ointment onto your skin every day to add moisture.[webmd.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.de]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]

Prognosis

  • Prognosis Life expectancy is normal. However, the unaesthetic and malodorous aspects of the skin, the pain and bleeding related to PPK, and infections lead to functional disabilities and a greatly reduced quality of life. Last updated: 12/1/2012[rarediseases.info.nih.gov]

Etiology

  • Etiology IHCM results from heterozygous frameshift mutation in a section of the KRT1 gene encoding keratin 1 (K1).[rarediseases.info.nih.gov]

Epidemiology

  • Epidemiology Prevalence is unknown. Six families and sporadic cases have been reported to date. Clinical description The skin is usually normal at birth.[rarediseases.info.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • […] epidermolytic leukoplakia Terminology Other names: Epidermolytic ichthyosis Bullous congenital ichthyosiform erythroderma Bullous ichthysosis Bullous erythroderma ichthyosiformis congenita of Brocq Disorder of cornification type 3 Vorner's syndrome Pathophysiology[pathologyoutlines.com]

Prevention

  • The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer.[gulfdoctor.net]
  • Prevention - Ichthyosis hystrix- Curth Macklin type Not supplied. Diagnosis - Ichthyosis hystrix- Curth Macklin type Not supplied. Prognosis - Ichthyosis hystrix- Curth Macklin type Not supplied.[checkorphan.org]
  • Home Our Team Patient Info Services Patient Forms Patient Portal Bill Payment Health Library Sean Boyle, MD Biography Home Health Centers Wellness, Prevention & General Health Arthritis Asthma & Allergies Child & Adolescent Health Diabetes Digestive Disorders[tfmdoc.com]
  • It has a protective function against external aggressions and prevents the fluid loss. Genetic defects affecting each of its components have now been identified in a majority of ichthyosis.[geneskin.org]

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