Edema, and Nail dystrophy

Diseases related with Edema and Nail dystrophy

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

Top matches:

PEELING SKIN SYNDROME 4; PSS4 Is also known as ichthyosis, exfoliative, autosomal recessive|ichthyosis bullosa of siemens-like|arei

Related symptoms:

  • Edema
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about PEELING SKIN SYNDROME 4; PSS4

Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. The skin involvement is usually general, but in some patients the scalp, face, palms, and soles may be unaffected. Seasonal changes have been reported. The histologic picture is characterized by separation of the epidermis between the statum corneum and the stratum granulosum (summary by Hacham-Zadeh and Holubar, 1985).Generalized PSS has been subclassified into a noninflammatory type, designated type A, and an inflammatory type, designated type B (Traupe, 1989; Judge et al., 2004). Type B, in which generalized peeling skin is associated with pruritus and atopy, is characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly thereafter. Several patients have been reported with high IgE levels (summary by Oji et al., 2010). Type A, a continuous nonerythematous exfoliation, is usually congenital or appears during childhood (summary by Mallet et al., 2013). Genetic Heterogeneity of Peeling Skin SyndromePeeling skin syndrome-2 (PSS2 ), an acral form of the disorder that mainly involves palmar and plantar skin, is caused by mutation in the TGM5 gene (OMIM ) on chromosome 15q15. Peeling skin syndrome-3 (PSS3 ) is caused by mutation in the CHST8 gene (OMIM ) on chromosome 19q13. Peeling skin syndrome-4 (PSS4 ) is caused by mutation in the CSTA gene (OMIM ) on chromosome 3q21. Peeling skin syndrome-5 (PSS5 ) is caused by mutation in the SERPINB8 gene (OMIM ) on chromosome 18q22. PSS6 (OMIM ) is caused by mutation in the FLG2 gene (OMIM ) on chromosome 1q21.

PEELING SKIN SYNDROME 1; PSS1 Is also known as pss|keratolysis exfoliativa congenita|deciduous skin|skin peeling, familial continuous generalized

Related symptoms:

  • Short stature
  • Edema
  • Abnormality of metabolism/homeostasis
  • Alopecia
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about PEELING SKIN SYNDROME 1; PSS1

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

Other less relevant matches:

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5 Is also known as ichthyosis congenita iii|ichthyosis, lamellar, 3, formerly|li3, formerly|nnci|ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive

Related symptoms:

  • Flexion contracture
  • Renal insufficiency
  • Alopecia
  • Hyperkeratosis
  • Erythema


SOURCES: OMIM MESH MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5

Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.

JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE Is also known as epidermolysis bullosa letalis|junctional epidermolysis bullosa, herlitz type|junctional epidermolysis bullosa, herlitz-pearson type|jeb-herlitz type|jeb-h|epidermolysis bullosa junctionalis, herlitz type|epidermolysis bullosa, junctional, herlitz-pearson

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Respiratory insufficiency
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Low match NEVUS OF ITO

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Top 5 symptoms//phenotypes associated to Edema and Nail dystrophy

Symptoms // Phenotype % cases
Alopecia Common - Between 50% and 80% cases
Nail dysplasia Uncommon - Between 30% and 50% cases
Erythroderma Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Nail dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Palmoplantar keratoderma Erythema Hyperkeratosis Short stature Seizures Malabsorption Ectropion Fine hair Abnormal blistering of the skin Skin rash Renal insufficiency Pruritus Epidermal acanthosis Ichthyosis

Rare Symptoms - Less than 30% cases

Hypertension Pain Peripheral edema Protein-losing enteropathy Cachexia Abnormal intestine morphology Kyphoscoliosis Abnormality of the urinary system Abdominal pain Diarrhea Vomiting Scoliosis Dehydration Sepsis Scarring Anemia Paresthesia Abnormality of the dentition Syndactyly Breast aplasia Abnormality of the kidney Hypoplastic nipples Hyperhidrosis Aplasia cutis congenita Osteoporosis Sparse hair Flexion contracture Abnormality of skin pigmentation Abnormality of the vasculature Colon cancer Ridged nail Abnormality of the fingernails Hyperpigmentation of the skin Lymphedema Delayed eruption of teeth Failure to thrive Recurrent urinary tract infections Concave nail Fever Abnormal facial shape Congenital ichthyosiform erythroderma Orthokeratosis Lichenification Hepatomegaly Hypotrichosis Onycholysis Weight loss Dystrophic fingernails Scaling skin Immunodeficiency Splenomegaly Dry skin Parakeratosis Optic atrophy Microphthalmia Blue irides Spasticity Visual impairment Strabismus Microcephaly Intellectual disability Recurrent infections Thickening of the lateral border of the scapula Visual loss Pallor Papule Duplication of renal pelvis Hypoplastic radial head Retinal detachment Hypopigmentation of the skin Hypodontia Tetraplegia Nevus Ectodermal dysplasia Increased bone mineral density Hemivertebrae Eosinophilia Coarse hair Stellate iris Quadriceps aplasia Abnormality of the scalp 2-3 toe syndactyly Short columella Absence of pectoralis minor muscle Palpebral edema Narrow nasal bridge Multiple lipomas Agenesis of permanent teeth Cupped ear Eyelid coloboma Abnormality of the thorax Lester's sign Cutaneous syndactyly Narrow palpebral fissure Type I diabetes mellitus Abnormality of the nail Abnormality of the antihelix Elongated radius Underdeveloped antitragus Disproportionate prominence of the femoral medial condyle 3-4 finger cutaneous syndactyly Underdeveloped tragus Hyperostosis Bilateral camptodactyly Hypoplastic helices Bilateral renal hypoplasia Small earlobe Abnormality of the endocrine system Aplasia cutis congenita of scalp Pyelonephritis Ureteral duplication Triceps aplasia Absent nipple Aplasia/Hypoplasia of the nipples Keratitis Conical tooth Supernumerary nipple Renal dysplasia Arthrogryposis multiplex congenita Talipes Confusion Cleft upper lip Oral cleft Congenital nephrotic syndrome Hematuria Nephropathy Microcornea Cervical ribs Nephrotic syndrome Lumbar hyperlordosis Microalbuminuria Spina bifida Proteinuria Aortic regurgitation Pterygium Glomerulonephritis Nephritis Anonychia Limited elbow extension Aplasia/Hypoplasia of the patella Patellar hypoplasia Patellar aplasia Tubulointerstitial nephritis Raynaud phenomenon Keratoconus Renal cell carcinoma Patellar dislocation Cleft lip Pes planus Uveitis Microphakia Pustule Hypoplasia of the fovea Anodontia Abnormality of the elbow Thick nail Generalized osteosclerosis Breast hypoplasia Supernumerary ribs Iliac horns Scarring alopecia of scalp Glenoid fossa hypoplasia Hypohidrotic ectodermal dysplasia Hypoplasia of first ribs Retinal hemorrhage Deep-set nails Glaucoma Nail pits Hyperpigmented streaks Retinal vascular proliferation Antecubital pterygium Atrophic, patchy alopecia Hearing impairment Absent distal interphalangeal creases Sensorineural hearing impairment Cleft palate Albuminuria Abnormality of the hair Talipes equinovarus Pectus excavatum Clinodactyly of the 5th finger Ptosis Paronychia Hypohidrosis Nausea Congenital nonbullous ichthyosiform erythroderma Subungual hyperkeratosis Eclabion Hypernatremic dehydration Brachydactyly Short neck Kyphosis Severe short stature Hypothyroidism Arthritis Platyspondyly Nausea and vomiting Genu valgum Postural instability Acute kidney injury Bowing of the long bones Chronic diarrhea Rheumatoid arthritis Malnutrition Scleroderma Thoracic kyphosis Thoracolumbar scoliosis Mucopolysacchariduria Stiff neck Intestinal polyp Muscle weakness Macrocephaly Fatigue Autoimmunity Acanthocytosis Anhidrosis Anorexia Peripheral neuropathy Palmoplantar hyperkeratosis Congenital bullous ichthyosiform erythroderma Diffuse palmoplantar hyperkeratosis Abnormality of metabolism/homeostasis Asthma Inflammatory abnormality of the skin Brittle hair Urticaria Psoriasiform dermatitis Hypergranulosis Increased IgE level Abnormality of hair texture Angioedema Orthokeratotic hyperkeratosis Skeletal muscle atrophy Absent eyebrow Tremor Hepatosplenomegaly Lymphadenopathy Lymphoma Abnormality of the face Thickened skin Neoplasm of the skin Irregular hyperpigmentation Gangrene Abnormality of the pleura T-cell lymphoma Abnormal lymphocyte morphology Abnormal immunoglobulin level Cutaneous T-cell lymphoma Tapered finger Hypocalcemia Renal hypoplasia Anteverted nares Squamous cell carcinoma of the skin Skin erosion Esophageal stricture Laryngeal stenosis Laryngeal stridor Congenital localized absence of skin Mitten deformity Junctional split Global developmental delay Generalized hypotonia Low-set ears Depressed nasal bridge Epicanthus Myopia Mandibular prognathia Atrophic scars Telecanthus Camptodactyly Abnormality of the pinna Protruding ear Blepharophimosis Coloboma Microtia Finger syndactyly Congenital cataract Iris coloboma Vesicoureteral reflux Abnormality of the skin Renal agenesis Hypotelorism Ankyloglossia Milia Hypokalemia Stomach cancer Hypoalbuminemia Clubbing Hypoplastic toenails Aplasia/Hypoplasia of the eyebrow Sparse body hair Generalized hyperpigmentation Thromboembolism Xerostomia Hypomagnesemia Hematochezia Dystrophic toenail Clubbing of fingers Furrowed tongue Intestinal polyposis Hamartomatous polyposis Pyloric stenosis Patchy alopecia Glossitis Gastrointestinal carcinoma Decreased taste sensation Feeding difficulties Respiratory insufficiency Respiratory failure Narrow mouth Dyspnea Dilated cardiomyopathy Carious teeth Hypoplasia of dental enamel Hoarse voice Recurrent skin infections Biceps aplasia


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