Edema, and Thin skin

Diseases related with Edema and Thin skin

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

Top matches:

Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.

SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS Is also known as ichthyosis bullosa of siemens|sei

Related symptoms:

  • Edema
  • Erythema
  • Ichthyosis
  • Palmoplantar keratoderma
  • Abnormal blistering of the skin


SOURCES: ORPHANET MENDELIAN

More info about SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS

Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.

EXFOLIATIVE ICHTHYOSIS Is also known as ichthyosis, bullous type|ichthyosis exfoliativa|autosomal recessive exfoliative ichthyosis

Related symptoms:

  • Edema
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Ichthyosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about EXFOLIATIVE ICHTHYOSIS

Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME Is also known as hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome

Related symptoms:

  • Hypertension
  • Respiratory distress
  • Abnormality of the dentition
  • Alopecia
  • Hyperhidrosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME

Other less relevant matches:

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

Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form|osteogenesis imperfecta congenita|oi type 2|lethal osteogenesis imperfecta|oi, type ii|oic|vrolik type of osteogenesis imperfecta

Related symptoms:

  • Microcephaly
  • Cataract
  • Respiratory insufficiency
  • Congestive heart failure
  • Abnormality of the dentition


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 2

Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).

CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA Is also known as cushing disease, pituitary|primary bilateral macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Medium 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 Thin skin

Symptoms // Phenotype % cases
Erythema Common - Between 50% and 80% cases
Alopecia Uncommon - Between 30% and 50% cases
Generalized hirsutism Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Striae distensae Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Thin skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Recurrent fractures Micrognathia Osteopenia Neoplasm Obesity Hirsutism Dermal atrophy Bruising susceptibility Abnormality of the dentition Palmoplantar keratoderma Hyperkeratosis Abnormal blistering of the skin Hypertension

Rare Symptoms - Less than 30% cases

Blue sclerae Wormian bones Arachnodactyly Scoliosis Hypertelorism Dorsocervical fat pad Convex nasal ridge Flexion contracture Recurrent infections Proptosis Macronodular adrenal hyperplasia Scarring Fine hair Long nose Carious teeth Visual impairment Muscle weakness Failure to thrive Nephrolithiasis Poor wound healing Pituitary adenoma Subarachnoid hemorrhage Increased circulating cortisol level Truncal obesity Acne Hypokalemia Increased body weight Round face Abdominal obesity Mood changes Cataract Diabetes mellitus Depressivity Moon facies Kyphosis Fatigue Skeletal muscle atrophy Respiratory insufficiency Hearing impairment Cutaneous photosensitivity Fragile skin Hepatitis Anemia Lymphedema Sparse hair Skin rash Inflammatory abnormality of the skin Skin vesicle Nonimmune hydrops fetalis Hyperhidrosis Acantholysis Ichthyosis Premature loss of permanent teeth Alveolar bone loss around teeth Premature loss of primary teeth Hypoplasia of the zygomatic bone Cigarette-paper scars Atrophy of alveolar ridges Severe periodontitis Palmoplantar cutis laxa Prolonged neonatal jaundice Abnormality of the immune system Aplasia/Hypoplasia of the skin Abnormality of the hip bone Abnormality of the fingernails Elevated erythrocyte sedimentation rate Intestinal perforation Petechiae Increased antibody level in blood Gingival recession Osteomyelitis Bilateral single transverse palmar creases Psoriasiform dermatitis Recurrent pneumonia Systemic lupus erythematosus Reduced bone mineral density Elevated hepatic transaminase White forelock Chronic lung disease Diffuse telangiectasia Osteoarthritis Mitral regurgitation Tall stature Gingival overgrowth Hoarse voice Vasculitis Joint dislocation Osteolysis Cutis laxa Hyperextensible skin Urticaria Hypermelanotic macule Agenesis of permanent teeth Crusting erythematous dermatitis Chronic pain Atrophic scars Abnormal joint morphology Facial hirsutism Premature loss of teeth Gingival bleeding Poliosis Soft skin Gingivitis Abnormality of the middle ear Periodontitis Generalized joint laxity Mitral stenosis Concave nasal ridge Low anterior hairline Skin ulcer Cardiomyopathy Hepatomegaly Onychomycosis Metrorrhagia Primary hypercortisolism Intellectual disability Global developmental delay Abnormal facial shape Ptosis Dry skin High palate Delayed speech and language development Genu valgum Depressed nasal bridge Pruritus Downslanted palpebral fissures Neoplasm of the endocrine system Intellectual disability, severe Vomiting Diarrhea Papule Intellectual disability, mild Splenomegaly Short nose Malar flattening Abnormality of metabolism/homeostasis Thrombocytopenia Recurrent respiratory infections Prominent forehead High forehead Decreased circulating ACTH level Adrenal hyperplasia Myopathy Psychosis Immunodeficiency Hepatosplenomegaly Headache Visual loss Abdominal pain Anxiety Mental deterioration Abnormality of retinal pigmentation Lethargy Infertility Sleep disturbance Hypotension Memory impairment Venous thrombosis Bipolar affective disorder Recurrent skin infections Abnormal lung morphology Lipodystrophy Depressed nasal ridge Low posterior hairline Premature ovarian insufficiency Agitation Menorrhagia Orthostatic hypotension Dehydration Telangiectasia of the skin Asthma Generalized hyperpigmentation Aseptic necrosis Microdontia Meningioma Joint hypermobility Hyperpigmentation in sun-exposed areas Cerebral palsy Hypopigmented skin patches Scleroderma Hepatocellular carcinoma Atypical scarring of skin Onycholysis Anemia of inadequate production Alcoholism Congenital hypoplastic anemia Facial hypertrichosis Viral hepatitis Porphyrinuria Microcephaly Hypertrichosis Congestive heart failure Pneumonia Small for gestational age Platyspondyly Premature birth Coarctation of aorta Bowing of the long bones Large fontanelles Disproportionate short-limb short stature Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Metaphyseal widening Tibial bowing Hyperpigmentation of the skin Sudden cardiac death Lens luxation Cutis marmorata Erythroderma Lichenification Congenital bullous ichthyosiform erythroderma Respiratory distress Hypotrichosis Ascites Nevus Sparse scalp hair Telangiectasia Hydrops fetalis Abnormality of the nail Pleural effusion Absent eyebrow Sparse body hair Hepatic steatosis Palpebral edema Absent eyelashes Hydrocele testis Alopecia totalis Toenail dysplasia Abnormality of the lymphatic system Predominantly lower limb lymphedema Palmar telangiectasia Plantar telangiectasia Carcinoma Abnormality of the liver Cirrhosis Hemolytic anemia Pulmonary insufficiency Multiple prenatal fractures Joint hyperflexibility Menometrorrhagia Amenorrhea Emotional lability Glucose intolerance Hyperparathyroidism Oligomenorrhea Alkalosis Vertebral compression fractures Ecchymosis Biconcave vertebral bodies Facial erythema Increased circulating ACTH level Abnormality of the menstrual cycle Peripheral edema Adrenocorticotropic hormone excess Narrow philtrum Abnormal fear/anxiety-related behavior Psychotic mentation Short stature Pain Dilatation Hernia Inguinal hernia Arthralgia Umbilical hernia Pes planus Arthritis Joint laxity Autoimmunity Thin calvarium Increased thyroid-stimulating hormone level Broad long bones Thin vermilion border Abnormality of calvarial morphology Beaded ribs Crumpled long bones Absent ossification of calvaria Sensorineural hearing impairment Brachydactyly Microphthalmia Midface retrusion Delayed skeletal maturation Kyphoscoliosis Retrognathia Prominent nasal bridge Hypermetropia Delayed eruption of teeth Osteolytic defects of the phalanges of the hand Hypoplasia of the maxilla Abnormality of the skin Hypotelorism Growth abnormality Cachexia Pterygium Flat occiput Delayed cranial suture closure Lipoatrophy Slender long bone Prematurely aged appearance Narrow nose Shallow orbits Recurrent cystitis


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