Congestive heart failure, and Abnormal blistering of the skin

Diseases related with Congestive heart failure and Abnormal blistering of the skin

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Abnormal blistering of the skin that can help you solving undiagnosed cases.


Top matches:

Medium match NAXOS DISEASE


Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.

NAXOS DISEASE Is also known as keratosis palmoplantaris with arrhythmogenic cardiomyopathy|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|kwwh type i|keratoderma with woolly hair type i|mal de naxos|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyo

Related symptoms:

  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Arrhythmia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NAXOS DISEASE

Medium match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Low match PEELING SKIN SYNDROME 2; PSS2


Peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In an acral form of the disorder (PSS2), the dorsa of the hands and feet are predominantly affected, and ultrastructural analysis shows separation at the junction between the granular cells and the stratum corneum in the outer epidermis (summary by Cassidy et al., 2005).For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (OMIM ).

PEELING SKIN SYNDROME 2; PSS2 Is also known as acral peeling skin syndrome|peeling skin syndrome, acral type|apss

Related symptoms:

  • Hyperhidrosis
  • Erythema
  • Scarring
  • Pruritus
  • Abnormal blistering of the skin


SOURCES: OMIM MENDELIAN

More info about PEELING SKIN SYNDROME 2; PSS2

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Other less relevant matches:

Low match GLUCOCORTICOID DEFICIENCY 5; GCCD5


Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Ventricular septal defect
  • Congestive heart failure
  • Truncus arteriosus


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 5; GCCD5

Low match THROMBOCYTOPENIA, CYCLIC


Related symptoms:

  • Anemia
  • Fatigue
  • Thrombocytopenia
  • Depressivity
  • Anxiety


SOURCES: OMIM MENDELIAN

More info about THROMBOCYTOPENIA, CYCLIC

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 FOCAL FACIAL DERMAL DYSPLASIA TYPE IV


Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.

FOCAL FACIAL DERMAL DYSPLASIA TYPE IV Is also known as ffdd type iv|focal facial dermal dysplasia 4|focal facial preauricular dysplasia|ffdd4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Hydrocephalus
  • Cleft lip
  • Sparse hair


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE IV

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND


Related symptoms:

  • Cardiomyopathy
  • Hyperkeratosis
  • Scarring
  • Muscular dystrophy
  • Papule


SOURCES: OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND

Low match GLUCAGONOMA


Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.

GLUCAGONOMA Is also known as glucagonoma syndrome

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Depressivity
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET MESH MENDELIAN

More info about GLUCAGONOMA

Low match HEREDITARY COPROPORPHYRIA


Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

HEREDITARY COPROPORPHYRIA Is also known as cpox deficiency|cpx deficiency|coproporphyrinogen oxidase deficiency|cpo deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Hypertension


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY COPROPORPHYRIA

Top 5 symptoms//phenotypes associated to Congestive heart failure and Abnormal blistering of the skin

Symptoms // Phenotype % cases
Skin rash Uncommon - Between 30% and 50% cases
Pruritus Uncommon - Between 30% and 50% cases
Erythema Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Skin vesicle Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Abnormal blistering of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Anemia Fragile skin Scarring Hyperkeratosis Hyperhidrosis Alopecia

Rare Symptoms - Less than 30% cases


Anxiety Hypopigmented skin patches Seizures Fatigue Cutaneous photosensitivity Gastrointestinal hemorrhage Cardiomyopathy Thromboembolism Hemolytic anemia Hypertrichosis Thin skin Hepatomegaly Diarrhea Constipation Nausea and vomiting Onycholysis Intracranial hemorrhage Nail dystrophy Tachycardia Sudden cardiac death Arrhythmia Cleft upper lip Plantar hyperkeratosis Cupped ear Aplasia cutis congenita Unilateral cleft lip Abnormality of the cheek Fragmented elastic fibers in the dermis Growth hormone excess Abnormal mast cell morphology Abnormality of buccal mucosa Abnormality of epidermal morphology Muscular dystrophy Papule Poor appetite Abnormality of the thyroid gland Abnormal heart morphology Dermal atrophy Diabetes mellitus Increased circulating gonadotropin level Weight loss Dilatation Ascites Anorexia Hypercalcemia Intestinal obstruction Steatorrhea Respiratory failure Cutis laxa Hemangioma Congenital hypoplastic anemia Inflammatory abnormality of the skin Dilated cardiomyopathy Hyperpigmentation of the skin Generalized hirsutism Cerebral palsy Dyspnea Scleroderma Hepatocellular carcinoma Atypical scarring of skin Anemia of inadequate production Alcoholism Facial hypertrichosis Short chin Viral hepatitis Porphyrinuria Hyperpigmentation in sun-exposed areas Microcephaly Cleft palate Hydrocephalus Cleft lip Sparse hair Carious teeth Nevus Focal-onset seizure Hemiparesis Increased circulating cortisol level Cardiac arrest Abnormality of abdomen morphology Hypermelanotic macule Elevated hepatic transaminase Myalgia Irritability Paralysis Confusion Paresthesia Nausea Metabolic acidosis Hypotension Psychosis Hallucinations Hyponatremia Orthostatic hypotension Jaundice Prolonged neonatal jaundice Insomnia Visual hallucinations Ileus Auditory hallucinations Paranoia Delirium Congenital hemolytic anemia Compensated hemolytic anemia Respiratory paralysis Abdominal colic Red urine Hepatosplenomegaly Arthralgia Prolactin excess Subcutaneous lipoma Neoplasm of the pancreas Intrahepatic cholestasis Pituitary adenoma Chronic fatigue Acanthocytosis Primary hyperparathyroidism Parathyroid adenoma Stomatitis Intermittent jaundice Adrenocortical adenoma Normochromic anemia Extrahepatic cholestasis Glossitis Acidosis Lack of bowel sounds Necrolytic migratory erythema Abnormal gastrointestinal motility Muscle weakness Pain Hypertension Peripheral neuropathy Vomiting Behavioral abnormality Splenomegaly Abnormality of metabolism/homeostasis Areflexia Abdominal pain Episodic abdominal pain Hepatitis Acanthosis nigricans Camptodactyly of finger Scoliosis Strabismus Muscular hypotonia Cataract Spasticity Cognitive impairment Visual impairment Gait disturbance Microphthalmia Cerebral cortical atrophy Umbilical hernia Palpitations Global developmental delay Attention deficit hyperactivity disorder Finger syndactyly Corneal opacity Oral cleft Abnormality of skin pigmentation Retinal detachment Delayed eruption of teeth Hypodontia Pulmonary arterial hypertension Blue sclerae Skin ulcer Abnormality of the hair Short stature Sparse scalp hair Abnormality of dental enamel Reduced ejection fraction Ventricular tachycardia Ventricular arrhythmia Brittle hair Akinesia Right bundle branch block Exertional dyspnea Sparse and thin eyebrow Curly hair Alopecia of scalp Ventricular extrasystoles Woolly hair Clubbing of fingers Long eyelashes Intellectual disability Hypergranulosis T-wave inversion Right ventricular cardiomyopathy Abnormality of hair texture Acantholysis Abnormal T-wave Prolonged QRS complex Right ventricular dilatation Paroxysmal ventricular tachycardia Abnormal right ventricle morphology Ventricular flutter Abnormal morphology of right ventricular trabeculae Abnormality of the nail Abnormality of the fingernails Hepatic steatosis Purpura Scaling skin Ventricular septal defect Truncus arteriosus Ectodermal dysplasia Thrombocytopenia Syncope Falls Bruising susceptibility Neutropenia Abnormal bleeding Sepsis Epistaxis Palmoplantar keratoderma Cardiomegaly Cerebral hemorrhage Petechiae Autoimmune thrombocytopenia Gingival bleeding Arterial thrombosis Internal hemorrhage Cyclic neutropenia Edema Carcinoma Abnormality of the liver Cirrhosis Vertigo Cyanosis Retinal vascular proliferation Osteolysis Hearing abnormality Spina bifida occulta Epidermal acanthosis Eosinophilia Encephalitis Abnormality of dental morphology Keratitis Hemiplegia/hemiparesis Supernumerary nipple Telangiectasia of the skin Abnormality of immune system physiology Irregular hyperpigmentation Uveitis Abnormal toenail morphology Broad nail Dystrophic toenail Hypoplastic fingernail Verrucae Cerebral ischemia Deviation of finger Supernumerary ribs Asymmetric growth Retinal hemorrhage Absent hand Abnormal chorioretinal morphology Ridged fingernail Abnormal hand morphology Acute episodes of neuropathic symptoms



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Hypodontia, related diseases and genetic alterations Ventricular septal defect and Growth hormone deficiency, related diseases and genetic alterations

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