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Congenital erythropoietic porphyria (CEP) is one of the rarest of porphyrias occurring worldwide. CEP is a very rare genetic autosomal recessive disease, with mutation in the gene that codifies uroporphyrinogen-III synthase, leading to porphyrin accumulation in many tissues, with marked skin photosensitivity, hemolytic anemia with splenomegaly and...
Citations
... Самому младшему пациенту было 3 года [16]. Развивающаяся также в детском возрасте гепатоэритропоэтическая порфирия имеет кожные проявления, сходные с врожденной эритропоэтической порфирией, но лишена отличительных признаков: спленомегалии и эритродонтии [17]. С 1969 г. зарегистрировано 34 случая гепатоэритропоэтической порфирии у детей [18]. ...
Porphyrias are distinguished by the stage of heme synthesis at which a failure occurs, leading to the accumulation of intermediate products – porphyrins. Due to the low specificity of clinical manifestations of porphyria and the latent course of the disease, their timely diagnosis is difficult. This article substantiates the effectiveness of high-performance liquid chromatography method in the determination of porphyrins. The method is suitable for porphyrin determination in urine, blood and feces of patients. Examples of its work are shown.
... Red, Red-Purple, Red-Brown -congenital erythropoietic porphyria (CEP), lepromatous leprosy [35]. ...
In the present modern society, There is a growing consciousness about the appearance among both men and women. The importance towards the esthetics has tremendously increased. Due to the recent advancements and growing awareness about esthetics, people are eager to know how dentistry would help in enhancing their smiles.The overall feeling of appearance is influenced by their appearance of the dentition. The appearance of the dentition is of concern to a large number of people seeking dental treatment and the colour of the teeth is of particular cosmetic importance. Tooth discoloration presents two major challenges to a dentist. The first challenge is to ascertain the cause of the stain and the second is its management. Discoloration may be limited to a single tooth or several teeth in a single arch or it may be generalized and evident on all of the teeth. Main key for the treatment lies in recognition of actual cause for the discoloration. In some cases, scaling and polishing the teeth will improve the situation; however, more extensive treatment often is needed to achieve a satisfying result.
... Clinical tests were performed to confirm the type of porphyria. Wood's lamp test was performed to confirm the CEP as the test involves the UV light and it is a diagnostic marker test for the CEP (Bhavasar et al., 2011). ...
... Moreover, Koley and Saoji 18 reported two another cases with classical discoloration of CEP. Bhavasar et al 19 focused on the erythrodontia in an 18-month-old baby girl. In this present case, we report a 21-month-old baby girl with CEP characterized by cutaneous manifestations and hemolysis. ...
... 24,25 In fluorosis teeth, enamel becomes stained as an unsightly yellow to brown color. 19 Other metabolic disorders, such as alkaptonuria, may also lead to black discoloration of teeth. On account of the deposition of bilirubin, the teeth can develop discoloration during dental calcification in neonatal jaudince. ...
Background
The causes for intrinsic tooth discoloration can be separated into two categories as systemic and local. Systemic causes are either genetic or drug induced effects. The development of dentition can also be affected by a number of systemic factors and metabolic diseases such as porphyria. Congenital erythropoietic porphyria (CEP), also known as Gunther's disease, is a metabolic disease caused by a transformation in the gene that codifies uroporphyrinogen‐3 shynthesis, leading to porphyrin aggregation in urine, skin, bone, and dentin.
Case Report
A 21‐month‐old girl with erythrodontia was referred to Paediatric Dentistry Department in September 2017. A physical examination revealed blisters on her face, nose, hands, and feet. Laboratory findings showed highly elevated urine total uroporphyrin and total coproporphyrin I and III levels. Next generation sequencing multigene panel testing for porphyria demonstrated a homozygous c.10C>T (p.L4F) mutation in the UROS gene. For curative therapy, the patient was admitted to the allogeneic bone marrow transplantation program.
Conclusion
CEP most commonly presents in the first few years of life. Manifestations can include reddish‐colored urine, skin blistering, scarring, and erythrodontia. A timely diagnosis can prevent undesirable skin findings of the disease and death due to hematological involvement before a curative allogeneic bone marrow transplantation is performed.
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... Furthermore, in other photodermatosis disorders, inflammation is not severe enough to produce cutaneous blisters [16]. The presence of erythrodontia is practically pathognomonic of CEP [17]. CEP should be considered in all cases presenting with cutaneous photosensitivity, red-colored urine and blistering of sun exposed areas [18]. ...
Background
Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis, erythrodontia and reddish-colored urine are often present, as well as hemolytic anemia accompanied by hepatosplenomegaly.
Case presentation
Here, we present a case of a 5-year-old male child of Middle Eastern origin who had been diagnosed as having alpha thalassemia and was undergoing chronic blood transfusions. He later presented with hypopigmented skin lesions and atrophy post-photosensitivity, persistent red-colored urine and hepatosplenomegaly. Laboratory investigations showed a high level of porphyrin metabolites in his plasma and erythrocytes. As a result, he was diagnosed as having Congenital erythropoietic porphyria.
Conclusion
Here, we diagnose a case of congenital erythropoietic porphyria which was initially missed, although the clinical features were clear (red-colored urine, hepatosplenomegaly and hemolytic anemia were present since birth, and skin manifestations appeared at the age of 22 months after being exposed to sunlight). After a DNA test was performed, the patient was initially diagnosed as having alpha thalassemia. We identified two causes of hemolytic anemia (congenital erythropoietic porphyria and alpha thalassemia) in this patient. The diagnosis of congenital erythropoietic porphyria was missed up until the child turned 5 years old. To our knowledge, this is the first case of hemolytic anemia to be reported with a diagnosis of both congenital erythropoietic porphyria and alpha thalassemia.
... This type of discoloration has been reported in congenital erythropoietic porphyria (CEP). CEP is a rare autosomal recessive metabolic disease, with mutation in the gene that codifies uroporphyrinogen-III synthtetase, leading to porphyrin accumulation in urine, skin, bone and dentine [5,47]. CEP is also known as Günther's disease and was first described in 1911 by Günther [47]. ...
... CEP is a rare autosomal recessive metabolic disease, with mutation in the gene that codifies uroporphyrinogen-III synthtetase, leading to porphyrin accumulation in urine, skin, bone and dentine [5,47]. CEP is also known as Günther's disease and was first described in 1911 by Günther [47]. In these cases, intraoral examination revealed a red-purple or red-brown discoloration (Erythrodontia) in the primary and permanent teeth. ...
... In these cases, intraoral examination revealed a red-purple or red-brown discoloration (Erythrodontia) in the primary and permanent teeth. Furthermore, under Wood's lamp there was a bright red fluorescence in the teeth [47]. Reddening of the upper central incisors in patients with lepromatous leprosy has been reported by Rundall. ...
Purpose: There has been a recent increasing interest in the management of dental staining as shown by the large number of tooth whitening materials appearing in the market. The aim of this review is to search the literature regarding tooth discoloration in order to introduce a new classification in terms of different clinical colors.
Methods: The PubMed database was searched for articles pertaining to the topic between the year 1932 and 2012. The search strategy for PubMed based on MeSH terms was: “tooth discoloration”, OR “tooth discolorations”, OR “tooth diseases”, OR “tooth bleaching”.
Results: Based on the relevant evidence, it was shown that tooth discoloration can be found in nine different color spectrums: black, brown, blue, green, grey, orange, pink, red, and yellow. Each color may represent various origins, which needs further investigations to be revealed.
Clinical significance: Our new classification based on clinical features of discolored teeth helps clinicians achieve timely diagnosis and avoid inappropriate therapeutic measures.
Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease due to the deficient, but not absent, activity of uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthesis pathway. Biallelic variants in the UROS gene result in decreased UROS enzymatic activity and the accumulation of non‐physiologic Type I porphyrins in cells and fluids. Overproduced uroporphyrins in haematopoietic cells are released into the circulation and distributed to tissues, inducing primarily hematologic and dermatologic symptoms. The clinical manifestations vary in severity ranging from non‐immune hydrops fetalis in utero to mild dermatologic manifestations in adults. Here, the biochemical, molecular and clinical features of CEP as well as current and new treatment options, including the rescue of UROS enzyme activity by chaperones, are presented.
The current review assesses the literature and depicts the hematological and metabolic diseases of newborns resulting in intrinsic stains of primary dentition. The appearance of dentition is an esthetic concern to the child as well as to the caregivers. The correct diagnosis claims prime importance to the dentist as it has profound value in deciding the appropriate treatment protocol and describing it to the patient. The review describes the hematological and metabolic diseases of newborns which can affect the color of normal pediatric dentition. Erythroblastosis fetalis, icterus gravis neonatorum, congenital erythropoietic porphyria, thalassemia, sickle cell anemia, and alkaptonuria are found to have a definite impact on the intrinsic discoloration of deciduous teeth. The article is an overview of those congenital hematological and metabolic disorders and their direct and indirect effects on primary dentition at the pre-eruptive stage resulting in discoloration.
Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder in which the activity of uroporphyrinogen III synthase (UROS) is decreased. This results in the accumulation of photoreactive porphyrinogens, primarily in the skin and bone marrow. We describe a case of a patient with CEP who initially presented with scarring and shortening of the anterior and posterior lid lamella, which led to the development of lagophthalmos. Vascularized hyperkeratotic plaques in both corneas were also present. Despite treatment with topical ocular surface lubricants, corneal perforation with iris and uvea prolapse developed and evisceration of the right eye under local anesthesia was performed. The presented case suggests that despite topical therapy, ocular complications may exacerbate requiring surgical intervention, especially in the presence of lagophthalmos.
