Muscle weakness, and Erythema

Diseases related with Muscle weakness and Erythema

In the following list you will find some of the most common rare diseases related to Muscle weakness and Erythema that can help you solving undiagnosed cases.

Top matches:

Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.

GENERALIZED PUSTULAR PSORIASIS Is also known as ditra|interleukin 36 receptor antagonist deficiency|acrodermatitis continua of hallopeau|generalized pustular psoriasis|psorp|gpp|palmoplantar pustulosis

Related symptoms:

  • Muscle weakness
  • Fever
  • Headache
  • Erythema
  • Skin rash


SOURCES: OMIM ORPHANET MENDELIAN

More info about GENERALIZED PUSTULAR PSORIASIS

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

Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

GITELMAN SYNDROME; GTLMNS Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|potassium and magnesium depletion

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GITELMAN SYNDROME; GTLMNS

Other less relevant matches:

Low match BLAU SYNDROME

Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Related symptoms:

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about BLAU SYNDROME

This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

PROGRESSIVE SYMMETRIC ERYTHROKERATODERMIA Is also known as darier-gottron disease|progressive symmetric erythrokeratodermia, gottron type|erythrokeratodermia progressiva symmetrica

Related symptoms:

  • Erythema
  • Palmoplantar keratoderma
  • Skin plaque


SOURCES: ORPHANET MENDELIAN

More info about PROGRESSIVE SYMMETRIC ERYTHROKERATODERMIA

Low match SARCOIDOSIS

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.

KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as kcnq2-related neonatal epileptic encephalopathy|kcnq2-nee

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY

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

For a general description of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ). Complementation group G has one of the smallest series of cases (Arlett et al., 1980).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG Is also known as xp, group g|xpgc|xeroderma pigmentosum vii|xp7

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG

Top 5 symptoms//phenotypes associated to Muscle weakness and Erythema

Symptoms // Phenotype % cases
Fever Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscle weakness and Erythema. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Edema Erythema nodosum Splenomegaly Anemia Failure to thrive Arthralgia Hyperpigmentation of the skin Arrhythmia Pain Lymphadenopathy Hypertension Intellectual disability Skin rash Scarring

Rare Symptoms - Less than 30% cases

Ventricular tachycardia Dyspnea Abnormal salivary gland morphology Iridocyclitis Hypercalciuria Alkalosis Blurred vision Joint swelling Glaucoma Facial erythema Nausea Elevated erythrocyte sedimentation rate Nephropathy Photophobia Facial palsy Growth delay Papule Camptodactyly of finger Ataxia Headache Hypokalemia Glucose intolerance Short stature Immune dysregulation Hepatomegaly Nephrolithiasis Osteopenia Increased antibody level in blood Abnormality of the liver Thrombocytopenia Congestive heart failure Alopecia Inability to walk Arthritis Palpitations Hyperhidrosis Skin plaque Diabetes insipidus Pleural effusion Inflammation of the large intestine Abnormality of the musculature Eosinophilia Anorexia Portal hypertension Chorioretinal atrophy Pulmonary fibrosis Decreased liver function Nephrocalcinosis Emphysema Osteolysis Hypercalcemia Epiphora Leukopenia Interstitial pulmonary abnormality Cough Bronchiectasis Generalized lipodystrophy Finger swelling Stiff skin Episcleritis Panniculitis Hypochromic anemia Flexion contracture of toe Clubbing of fingers Palmoplantar keratoderma Abnormally large globe Myositis Rimmed vacuoles Basal ganglia calcification Microcytic anemia Hypermelanotic macule Adipose tissue loss Visual impairment Subcutaneous nodule Hemolytic anemia Abnormal lung morphology Pancytopenia Syncope Sudden cardiac death Chest pain Hypopigmentation of the skin Hepatic failure Peripheral neuropathy Hyperuricemia Proximal muscle weakness Hypothyroidism Weight loss Renal insufficiency Blindness Respiratory distress Hyperthyroidism Macular edema Keratoconjunctivitis sicca Abnormality of the cerebral white matter Abnormal globus pallidus morphology Generalized tonic seizures Profound global developmental delay Cerebral edema Epileptic spasms Hypsarrhythmia Epileptic encephalopathy Pallor Poor gross motor coordination Apnea Cerebral atrophy Dystonia Hypoplasia of the corpus callosum Feeding difficulties Muscular hypotonia Global developmental delay Abnormal trabecular meshwork morphology EEG with burst suppression Pruritus Vitreous snowballs Small for gestational age Bilateral microphthalmos Infantile spasms Neoplasm of the skin Broad-based gait Cutaneous photosensitivity Intention tremor Congenital cataract Mental deterioration Abnormal blistering of the skin Pes cavus Microphthalmia Tremor Intrauterine growth retardation Spasticity Microcephaly Hearing impairment Scaling skin Pulmonary granulomatosis Enlarged lacrimal glands Hemoptysis Skin nodule Cystoid macular edema Chylothorax Vitreous hemorrhage Abnormality of the pleura Pneumothorax Anterior synechiae of the anterior chamber Night sweats Bone cyst Generalized lymphadenopathy Upper airway obstruction Abnormality of the gastrointestinal tract Tubulointerstitial nephritis Hypothermia Increased CSF protein Heart block Uveitis Optic neuropathy Abnormality of the cerebrospinal fluid Abnormality of the lymph nodes Maculopapular exanthema Enlargement of parotid gland Abnormality of the nasal mucosa Increased T cell count Abnormal cardiac ventricular function Parotitis Abnormal liver parenchyma morphology Non-caseating epithelioid cell granulomatosis Abnormality of T cell physiology Posterior vitreous detachment Abnormality of the adrenal glands Abnormality of skin morphology Abnormal reproductive system morphology Vitritis Vitreous floaters Abnormal conjunctiva morphology Anterior uveitis Dacryocystitis Chorioretinitis Long fingers Abnormal inflammatory response Lipodystrophy Moon facies Oligomenorrhea Meningioma Pituitary adenoma Vertebral compression fractures Ecchymosis Poor wound healing Abdominal obesity Biconcave vertebral bodies Increased circulating ACTH level Abnormality of the menstrual cycle Peripheral edema Mood changes Menometrorrhagia Adrenocorticotropic hormone excess Dorsocervical fat pad Striae distensae Anxiety Vertigo Confusion Paresthesia Delayed puberty Nausea and vomiting Paralysis Abdominal pain Macronodular adrenal hyperplasia Constipation Diarrhea Vomiting Generalized hypotonia Psychotic mentation Abnormal fear/anxiety-related behavior Increased circulating cortisol level Hyperparathyroidism Postural instability Parakeratosis Periostitis Asthenia Neutrophilia Chills Cholangitis Furrowed tongue Pustule Geographic tongue Osteomyelitis Leukocytosis Psoriasiform dermatitis Epidermal acanthosis Nail dysplasia Nail dystrophy Palmoplantar pustulosis Oligoarthritis Truncal obesity Round face Acne Emotional lability Generalized hirsutism Increased body weight Thin skin Amenorrhea Hirsutism Neoplasm Bruising susceptibility Diabetes mellitus Osteoporosis Depressivity Obesity Kyphosis Tachycardia Muscle cramps Growth abnormality Abnormality of the optic nerve Clear cell renal cell carcinoma Polyarticular arthritis Abnormal choroid morphology Posterior uveitis Synovitis Abnormality of the retinal vasculature Abnormal cranial nerve morphology Retrobulbar optic neuritis Xerostomia Pericarditis Keratitis Aortic aneurysm Skin ulcer Pulmonary arterial hypertension Large vessel vasculitis Flexion contracture Stage 5 chronic kidney disease Cardiomegaly Conjunctivitis Elbow flexion contracture Lymphopenia Bone pain Hypertriglyceridemia Thick lower lip vermilion Prominent nose Intellectual disability, mild Macroglossia Elevated hepatic transaminase Hepatosplenomegaly Macrotia Babinski sign Recurrent infections Limitation of joint mobility Ichthyosis Generalized muscle weakness Polyuria Renal salt wasting Hypomagnesemia Hyperventilation Episodic fever Rhabdomyolysis Prolonged QT interval Polydipsia Enuresis Hyperkinesis Ventricular arrhythmia Cardiac arrest Inflammatory abnormality of the skin Dehydration Hypotension Chondrocalcinosis Tetany Dry skin Nocturia Retinopathy Visual loss Salt craving Renal magnesium wasting Hypochloremia Renal potassium wasting Hypokalemic metabolic alkalosis Metabolic alkalosis Hypokalemic alkalosis Hypocalciuria Hypovolemia Pollakisuria Periodic paralysis Increased circulating renin level Defective DNA repair after ultraviolet radiation damage


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