Pain, and Abnormal blistering of the skin

Diseases related with Pain and Abnormal blistering of the skin

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


Top matches:

Low match CUTANEOUS MASTOCYTOMA


Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.

CUTANEOUS MASTOCYTOMA Is also known as solitary mastocytoma|cutaneous local mastocytoma|multiple mastocytoma

Related symptoms:

  • Headache
  • Abdominal pain
  • Pruritus
  • Abnormality of skin pigmentation
  • Abnormal blistering of the skin


SOURCES: ORPHANET MENDELIAN

More info about CUTANEOUS MASTOCYTOMA

Low match AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION


Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is a mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.

AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION Is also known as aplaid

Related symptoms:

  • Cataract
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION

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

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Other less relevant matches:

Low match DARIER DISEASE


Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.

DARIER DISEASE Is also known as keratosis follicularis|darier-white disease|dd|darier disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Pain
  • Intellectual disability, mild
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DARIER DISEASE

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

Low match PORPHYRIA VARIEGATA


Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA VARIEGATA

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 MASTOCYTOSIS, CUTANEOUS; MASTC


Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Low match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1


Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 Is also known as hereditary sensory and autonomic neuropathy type i|hsan1|hsan ia|hsn ia|neuropathy, hereditary sensory, type ia|hsn1a|neuropathy, hereditary sensory radicular, autosomal dominant, type 1a

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1

Top 5 symptoms//phenotypes associated to Pain and Abnormal blistering of the skin

Symptoms // Phenotype % cases
Pruritus Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases
Hypermelanotic macule Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Nausea and vomiting Erythema Cutaneous photosensitivity Fragile skin Peripheral neuropathy Psychosis Paralysis Paresthesia Vomiting Skin rash Hypertension Muscle weakness Constipation Seizures Depressivity Hyperhidrosis Hepatomegaly Anemia Edema Nausea Hypotension Abnormality of skin pigmentation Neoplasm Arthralgia Tachycardia

Rare Symptoms - Less than 30% cases


Gastrointestinal hemorrhage Acrokeratosis Gastroesophageal reflux Telangiectasia Leukemia Osteoporosis Hypopigmentation of the skin Carcinoma Weight loss Ascites Growth delay Nystagmus Short stature Visual hallucinations Hallucinations Splenomegaly Arrhythmia Areflexia Hepatosplenomegaly Thin skin Myalgia Anxiety Hypertrichosis Confusion Headache Insomnia Jaundice Recurrent infections Hyperkeratosis Papule Thrombocytopenia Thickened skin Cataract Urticaria Scarring Eczema Cutaneous mastocytosis Hemolytic anemia Polyneuropathy Bone pain Asthma Sudden cardiac death Bone marrow hypocellularity Osteolysis Leukopenia Recurrent fractures Shock Abnormality of the hair Sarcoma Portal hypertension Ichthyosis Loss of consciousness Abnormality of blood and blood-forming tissues Acute leukemia Flushing Allergy Generalized osteosclerosis Myeloproliferative disorder Cirrhosis Lamellar cataract Lymphadenopathy Melanoma Frontal bossing Abnormality of the dentition Alopecia Prominent forehead Hypogonadism Osteopenia Postnatal growth retardation Sparse hair Overgrowth Sparse scalp hair Erythroderma Malabsorption Squamous cell carcinoma Basal cell carcinoma Striae distensae Severe vision loss Alopecia of scalp Osteosarcoma Poikiloderma Concave nasal ridge Acantholysis Fatigue Subcutaneous nodule Hypersplenism Immunologic hypersensitivity Gastrointestinal stroma tumor Pathologic fracture Sensory neuropathy Abnormality of the skin Hypohidrosis Abnormal autonomic nervous system physiology Paraparesis Spastic paraparesis Anosmia Hammertoe Anhidrosis Brisk reflexes Osteomyelitis Arthropathy Distal amyotrophy Aseptic necrosis Vocal cord paralysis Decreased number of large peripheral myelinated nerve fibers Restless legs Decreased sensory nerve conduction velocity Chronic axonal neuropathy Morphological abnormality of the central nervous system Paronychia Distal sensory loss of all modalities Civatte bodies Neuropathic arthropathy Foot osteomyelitis Distal sensory impairment Peripheral axonal neuropathy Feeding difficulties Microcephaly Asthenia Impaired temperature sensation Abnormal eosinophil morphology Food intolerance Abnormality of the gastric mucosa Mastocytosis Dermatographic urticaria Anaphylactic shock Chronic leukemia Telangiectasia macularis eruptiva perstans Generalized hypotonia Hearing impairment Sensorineural hearing impairment Cough Skeletal muscle atrophy Gait disturbance Talipes equinovarus Respiratory insufficiency Hyporeflexia Babinski sign Pes cavus Dementia Pes planus Difficulty walking Mental deterioration Distal muscle weakness Visual impairment Hepatocellular carcinoma Porphyrinuria Intrahepatic cholestasis Abnormality of the thyroid gland Thromboembolism Poor appetite Increased circulating gonadotropin level Growth hormone excess Increased circulating cortisol level Abnormality of abdomen morphology Episodic abdominal pain Prolactin excess Neoplasm of the pancreas Pituitary adenoma Intestinal obstruction Chronic fatigue Acanthocytosis Primary hyperparathyroidism Parathyroid adenoma Stomatitis Intermittent jaundice Adrenocortical adenoma Normochromic anemia Extrahepatic cholestasis Subcutaneous lipoma Glossitis Steatorrhea Hypercalcemia Necrolytic migratory erythema Palmoplantar keratoderma Schizophrenia Macule Skin vesicle Nevus Aniridia Bipolar affective disorder Fragile nails Ridged nail Bone cyst Fractures of the long bones Palmar pits Plantar pits Anorexia Enlargement of parotid gland Anal mucosal leukoplakia Subungual hyperkeratotic fragments Intellectual disability, mild Cholecystitis Diabetes mellitus Acute hepatic failure Microcytic anemia Cholelithiasis Decreased liver function Cholestasis Lack of bowel sounds Abnormal gastrointestinal motility Premature adrenarche Immunodeficiency Respiratory paralysis Abdominal colic Red urine Acute episodes of neuropathic symptoms IgA deficiency Cellulitis Colitis Fever Abnormality of the skeletal system Clinodactyly Abnormality of the kidney Congenital hemolytic anemia Tetraplegia Aspiration Hypopigmented skin patches Chronic kidney disease Agitation Milia Restlessness Abnormality of the nail Neoplasm of the liver Motor polyneuropathy Dark urine Compensated hemolytic anemia Delirium Inflammatory abnormality of the skin Bronchiolitis Hypertriglyceridemia Tetraparesis Behavioral abnormality Abnormality of metabolism/homeostasis Hepatic failure Acidosis Falls Elevated hepatic transaminase Abnormality of the liver Irritability Interstitial pneumonitis Metabolic acidosis Paranoia Enterocolitis IgM deficiency Recurrent sinopulmonary infections Immune dysregulation Hyponatremia Orthostatic hypotension Prolonged neonatal jaundice Ulcerative colitis Corneal erosion Ileus Auditory hallucinations Autoamputation of foot



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