Edema, and Cutaneous photosensitivity

Diseases related with Edema and Cutaneous photosensitivity

In the following list you will find some of the most common rare diseases related to Edema and Cutaneous photosensitivity that can help you solving undiagnosed cases.


Top matches:

Medium match AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA


Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA Is also known as epp

Related symptoms:

  • Edema
  • Erythema
  • Pruritus
  • Cirrhosis
  • Eczema


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA

Low match CHILBLAIN LUPUS 2; CHBL2


Chilblain lupus is a rare cutaneous form of systemic lupus erythematosus (SLE ) characterized by tender, bluish-red swellings and nodules on the hands, feet, ears, and nose, with histologic changes of lupus. The phenotype is induced by cold, such that patients frequently report a worsening of lesions in the winter months (summary by Ravenscroft et al., 2011).For a general description and a discussion of genetic heterogeneity of chilblain lupus, see CHBL1 (OMIM ).

Related symptoms:

  • Edema
  • Cutaneous photosensitivity
  • Inflammatory abnormality of the skin
  • Vasculitis
  • Systemic lupus erythematosus


SOURCES: OMIM MENDELIAN

More info about CHILBLAIN LUPUS 2; CHBL2

Low match UV-SENSITIVE SYNDROME 3; UVSS3


UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Itoh et al., 1994 and Nakazawa et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Edema
  • Abnormality of the nervous system
  • Erythema
  • Dry skin


SOURCES: OMIM MENDELIAN

More info about UV-SENSITIVE SYNDROME 3; UVSS3

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Other less relevant matches:

Low match PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1


Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994). Genetic Heterogeneity of Erythropoietic ProtoporphyriaAlso see X-linked erythropoietic protoporphyria (XLEPP ), caused by mutation in the ALAS2 gene (OMIM ) on chromosome Xp11, and EPP2 (OMIM ), caused by mutation in the CLPX gene (OMIM ) on chromosome 15q22.

PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1 Is also known as ferrochelatase deficiency|protoporphyria, erythropoietic|heme synthetase deficiency|erythrohepatic protoporphyria|epp

Related symptoms:

  • Pain
  • Anemia
  • Edema
  • Thrombocytopenia
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1

Low match PORPHYRIA CUTANEA TARDA


Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

Low match CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3


Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

Low match AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS


Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.

AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS Is also known as bullous congenital ichthyosiform erythroderma of brock|epidermolytic ichthyosis|bie|bullous congenital ichthyosiform erythroderma|ehk|bullous erythroderma ichthyosiformis congenita of brocq|bcie|bullous ichthyosiform erythroderma|ichthyosis hystrix brocq

Related symptoms:

  • Growth delay
  • Hyperhidrosis
  • Hyperkeratosis
  • Weight loss
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS

Low match CONGENITAL ERYTHROPOIETIC PORPHYRIA


Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.

CONGENITAL ERYTHROPOIETIC PORPHYRIA Is also known as cep|gÜnther disease

Related symptoms:

  • Splenomegaly
  • Immunodeficiency
  • Thrombocytopenia
  • Osteopenia
  • Abnormality of the foot


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ERYTHROPOIETIC PORPHYRIA

Low match BENIGN CHRONIC PEMPHIGUS; BCPM


Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Low match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Edema and Cutaneous photosensitivity

Symptoms // Phenotype % cases
Erythema Common - Between 50% and 80% cases
Abnormal blistering of the skin Uncommon - Between 30% and 50% cases
Inflammatory abnormality of the skin Uncommon - Between 30% and 50% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Edema and Cutaneous photosensitivity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Thrombocytopenia Anemia Hyperkeratosis Skin rash Eczema Pruritus

Rare Symptoms - Less than 30% cases


Hepatitis Hypertrichosis Thin skin Generalized hirsutism Skin vesicle Prominent forehead Fragile skin Atypical scarring of skin Diarrhea Global developmental delay Osteopenia Splenomegaly Visual impairment Intellectual disability Cataract Hyperhidrosis Carcinoma Palmoplantar keratoderma Dehydration Skin ulcer Recurrent skin infections Erythroderma Concave nasal ridge Abnormality of skin pigmentation Micrognathia Vomiting Alopecia Telangiectasia Abnormality of the liver Pain Abnormality of the heme biosynthetic pathway Microcytic anemia Neoplasm Dry skin Cholelithiasis Decreased liver function Cirrhosis Systemic lupus erythematosus Facial hirsutism Ptosis High palate Abnormal facial shape Hypertelorism Crusting erythematous dermatitis Hearing impairment Delayed speech and language development Acrokeratosis Poliosis Lamellar cataract Acantholysis Alopecia of scalp Poikiloderma Overgrowth Osteoporosis Hypogonadism Postnatal growth retardation Sparse hair Leukemia Hypopigmentation of the skin Sparse scalp hair Osteosarcoma Melanoma Squamous cell carcinoma Basal cell carcinoma Striae distensae Severe vision loss Diffuse telangiectasia Hepatomegaly Depressed nasal bridge Abnormality of the middle ear Downslanted palpebral fissures Abnormality of the hip bone Low posterior hairline Depressed nasal ridge Abnormal lung morphology Abnormality of the immune system Abnormality of retinal pigmentation Lymphedema Aplasia/Hypoplasia of the skin Low anterior hairline Asthma Bilateral single transverse palmar creases Elevated erythrocyte sedimentation rate Recurrent pneumonia Petechiae Increased antibody level in blood Osteomyelitis Abnormality of the fingernails Reduced bone mineral density Convex nasal ridge Hirsutism Psoriasiform dermatitis Recurrent respiratory infections White forelock Intellectual disability, severe Intellectual disability, mild Short nose Malar flattening Recurrent infections Abnormality of metabolism/homeostasis Obesity Proptosis Arachnodactyly High forehead Hepatosplenomegaly Elevated hepatic transaminase Papule Chronic lung disease Carious teeth Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Genu valgum Hypernatremia Abnormality of the dentition Alcoholism Cerebral palsy Hypopigmented skin patches Scleroderma Hepatocellular carcinoma Onycholysis Anemia of inadequate production Congenital hypoplastic anemia Sudden cardiac death Facial hypertrichosis Viral hepatitis Porphyrinuria Hyperpigmentation in sun-exposed areas Microcephaly Cleft palate Low-set ears Hyperpigmentation of the skin Hepatic steatosis Intrauterine growth retardation Scarring Vasculitis Abnormality of the nervous system Neoplasm of the skin Freckling Increased cellular sensitivity to UV light Pigmentation anomalies of sun-exposed skin Jaundice Paresthesia Cholecystitis Falls Hepatic failure Polyneuropathy Tetraparesis Hypertriglyceridemia Cholestasis Acute hepatic failure Flexion contracture Talipes equinovarus Frontal bossing Abnormality of the hand Congenital bullous ichthyosiform erythroderma Hypernatremic dehydration Conjunctival hamartoma Immunodeficiency Abnormality of the foot Recurrent fractures Thickened skin Ectropion Disseminated intravascular coagulation Blepharitis Nonimmune hydrops fetalis Recurrent corneal erosions Keratoconjunctivitis Abnormal urinary color Short stature Feeding difficulties Generalized hyperkeratosis Heat intolerance Ventriculomegaly Weight loss Microphthalmia Cerebellar hypoplasia Arthrogryposis multiplex congenita Congenital cataract Brain atrophy Decreased fetal movement Rocker bottom foot Confusion Poor appetite Ichthyosis Sepsis Ectodermal dysplasia Epidermal acanthosis Palmoplantar hyperkeratosis Scaling skin Congenital ichthyosiform erythroderma Recurrent cystitis



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