Acute Hepatic Porphyria
Scarring and disfigurement can occur on healing. Anaemia and splenomegaly can also occur.[patient.info]
Severe photosensitivity leads to light-induced damage burning sensation and redness of the skin with blisters that can develop into ulcers scarring, sometimes severe Loss[amboss.com]
Severe Genetics Autosomal recessive Defective uroporphyrinogen -III synthase Pathophysiology Begins in childhood Bone marrow heme biosynthesis impairment Clinical findings Disfigurement[amboss.com]
Hepatoerythropoietic Porphyria
Disfiguring scarring with inflamed erosions was present on sites exposed . . . Jörg H. Horina, M.D. Peter Wolf, M.D. Karl-Franzens University, A-8036 Graz, Austria[nejm.org]
In this condition, the skin is severely sensitive to light, which often presents as blistering, scarring, and severe disfigurement.[dovemed.com]
In this condition, the skin is severely sensitive to light, which often presents as blistering, scarring, and severe disfigurement Hepatoerythropoietic Porphyria is described[dovemed.com]
Erythropoietic Porphyria
There is a marked degree of photosensitivity leading to considerable disfiguration due to scarring of the skin along with an enlarged spleen and a hemolytic anemia but no[albertaporphyriasociety.weebly.com]
Increased fragility of sun-exposed skin can lead to scarring and disfigurement on affected skin such as the face (the ears, nose, mouth) and the hands.[britishskinfoundation.org.uk]
Total avoidance of sunlight is usually essential to prevent further disfiguration.[albertaporphyriasociety.weebly.com]
Variegate Porphyria
Its victims show extreme sensitivity to sunlight and develop disfiguring scars (cutaneous porphyria).[health24.com]
There is a marked degree of photosensitivity leading to considerable disfiguration due to scarring of the skin along with an enlarged spleen and a hemolytic anemia but no[albertaporphyriasociety.weebly.com]
These lesions are most prominent on the exposed areas of the skin (face and hands / forearms) and can be disfiguring.[health24.com]
Dyskeratosis Congenita
Dyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients may be cared for by many medical sub specialties. The typical clinical features consist of lacy reticular skin[…][ncbi.nlm.nih.gov]
Pediatric Chronic Granulomatous Disease
We evaluated a boy who had multiple Salmonella septicemia, Aspergillus pneumonia and brain abscesses. His nitroblue tetrazolium (NBT) test was reportedly abnormal. The dihydrorhodamine (DHR) flow cytometry assay was compatible with typical X-linked chronic granulomatous disease (X-CGD). CYBB analysis revealed a novel[…][ncbi.nlm.nih.gov]
Porphyria Cutanea Tarda
Porphyria cutanea tarda (PCT) is a systemic disease caused by a deficiency of the enzyme uroporphyrinogen decarboxylase, which is the fifth enzyme in the heme biosynthetic pathway. This deficiency prevents porphyrin and its byproducts from producing heme. This case report presents a patient with PCT that is[…][ncbi.nlm.nih.gov]
Lesch Nyhan Syndrome
A patient with Lesch-Nyhan syndrome has had 3 recurrent episodes of coma, each associated with an acute illness. Extensive investigation for known causes of coma has failed to yield a diagnosis. Although coma is not generally recognized as a feature of Lesch-Nyhan syndrome, similar patients have been reported[…][ncbi.nlm.nih.gov]
Common Cold
Many survivors have permanent scars, often on their faces, or were left blind. Through vaccination, the disease was eradicated in 1980.[tools.wmflabs.org]
Smallpox, caused by the variola virus, was a highly contagious infectious disease that caused infected individuals to develop a fever and a progressive, disfiguring skin rash[tools.wmflabs.org]
Acne Vulgaris
Acne vulgaris is prevalent in the general population, with 40 to 50 million affected individuals in the United States. 1 Severe inflammation and injury can lead to disfiguring[mdedge.com]
scars from surgery or...[mdedge.com]
When acne has left permanent, disfiguring scars, there are medical techniques that can remove or improve the blemishes.[medical-dictionary.thefreedictionary.com]