Abnormality of the skeletal system, and Skin rash

Diseases related with Abnormality of the skeletal system and Skin rash

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Skin rash that can help you solving undiagnosed cases.


Top matches:

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH CIRCINATE MIGRATORY ERYTHEMA


Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH CIRCINATE MIGRATORY ERYTHEMA Is also known as ebs-migr

Related symptoms:

  • Erythema
  • Scarring
  • Skin rash
  • Abnormality of skin pigmentation
  • Skin vesicle


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH CIRCINATE MIGRATORY ERYTHEMA

Low match FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4


Related symptoms:

  • Pain
  • Splenomegaly
  • Arthralgia
  • Skin rash
  • Pruritus


SOURCES: OMIM MENDELIAN

More info about FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6


IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6 Is also known as antibody deficiency due to cd81 defect

Related symptoms:

  • Hepatomegaly
  • Renal insufficiency
  • Immunodeficiency
  • Thrombocytopenia
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6

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Other less relevant matches:

Low match PSEUDOFOLLICULITIS BARBAE


PSEUDOFOLLICULITIS BARBAE Is also known as pili incarnati|pfb|ingrown hairs

Related symptoms:

  • Scarring
  • Skin rash
  • Papule
  • Curly hair
  • Pustule


SOURCES: MESH OMIM MENDELIAN

More info about PSEUDOFOLLICULITIS BARBAE

Low match SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS


Seborrhea-like dermatitis with psoriasiform elements is a rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.

Related symptoms:

  • Hyperkeratosis
  • Arthralgia
  • Arthritis
  • Skin rash
  • Overgrowth


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS

Low match MONILETHRIX; MNLIX


Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. In the mildest forms, only the occipital regions of the scalp are involved; however, in severe forms the eyebrows, eyelashes, and secondary sexual hair may also be involved. Follicular hyperkeratosis with predilection for the scalp, nape of neck, and extensor surfaces of the upper arm and thighs is also a characteristic finding in these patients. Light microscopic examination is diagnostic and reveals elliptical nodes of normal thickness and intermittent constrictions (internodes) at which the hair easily breaks. There may be spontaneous improvement with time, especially during puberty and pregnancy, but the condition never resolves completely (summary by Zlotogorski et al., 2006).An autosomal recessive form of monilethrix-like congenital hypotrichosis (see {607903}) is caused by mutation in the DSG4 gene (OMIM ). The clinical picture of autosomal recessive monilethrix is more severe than the dominant form, with more extensive alopecia of the scalp, body, and limbs, and a papular rash involving the extremities and periumbilical region (Zlotogorski et al., 2006).The term monilethrix derives from the Latin word for necklace and the Greek for hair (Schweizer, 2006).

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Alopecia
  • Hyperkeratosis
  • Erythema
  • Skin rash


SOURCES: OMIM MENDELIAN

More info about MONILETHRIX; MNLIX

Low match PSORIASIS 1, SUSCEPTIBILITY TO; PSORS1


Psoriasis (psoriasis vulgaris; PV) is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is characterized by red, scaly skin patches that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age (summary by Matthews et al., 1996).Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein (OMIM ) (summary by Marrakchi et al., 2011). GPP often presents in patients with existing or prior psoriasis vulgaris; however, GPP can develop without a history of PV (Sugiura et al., 2013). Palmoplantar pustulosis and acrodermatitis continua of Hallopeau represent acral forms of pustular psoriasis that have historically been grouped with GPP (summary by Setta-Kaffetzi et al., 2013).Nestle et al. (2009) provided a detailed review of the pathogenesis and genetics of psoriasis. Genetic Heterogeneity of Psoriasis and Psoriasis SusceptibilityPSORS2 (OMIM ) is caused by mutation in the CARD14 gene (OMIM ) on chromosome 17q25, and PSORS14 (OMIM ) is caused by mutation in the IL36RN gene (OMIM ) on chromosome 2q14.Psoriasis susceptibility loci include PSORS1 on 6p21.3; PSORS3 (OMIM ) on 4q; PSORS4 on 1q21; PSORS5 (OMIM ) on 3q21; PSORS6 (OMIM ) on 19p; PSORS7 (OMIM ) on 1p; PSORS8 (OMIM ) on 16q; PSORS9 (OMIM ) on 4q31; PSORS10 (OMIM ) on 18p11; PSORS11 (OMIM ) on 5q31-q33; PSORS12 (OMIM ) on 20q13; PSORS13 (OMIM ), conferred by variation in the TRAF3IP2 gene (OMIM ) on 6q21; and PSORS15 (OMIM ), conferred by variation in the AP1S3 gene (OMIM ) on 2q36.An additional putative psoriasis candidate locus has been reported on 20p (Nair et al., 1997).

Related symptoms:

  • Fever
  • Arthritis
  • Skin rash
  • Scaling skin
  • Psoriasiform dermatitis


SOURCES: OMIM MENDELIAN

More info about PSORIASIS 1, SUSCEPTIBILITY TO; PSORS1

Low match THROMBOCYTOPENIA 3; THC3


Thrombocytopenia-3 is an autosomal recessive hematologic disorder characterized by onset of small-platelet thrombocytopenia in infancy. Patients may show variable bleeding tendency, manifest as petechiae, epistaxis, or heavy menstrual bleeding (summary by Levin et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.

THROMBOCYTOPENIA 3; THC3 Is also known as thrombocytopenia, autosomal recessive, 3

Related symptoms:

  • Abnormality of the skeletal system
  • Thrombocytopenia
  • Hepatosplenomegaly
  • Skin rash
  • Abnormal bleeding


SOURCES: MESH OMIM MENDELIAN

More info about THROMBOCYTOPENIA 3; THC3

Low match PRIMARY IMMUNODEFICIENCY WITH POST-MEASLES-MUMPS-RUBELLA VACCINE VIRAL INFECTION


Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.

PRIMARY IMMUNODEFICIENCY WITH POST-MEASLES-MUMPS-RUBELLA VACCINE VIRAL INFECTION Is also known as primary immunodeficiency with post-mmr vaccine viral infection

Related symptoms:

  • Seizures
  • Fever
  • Skin rash
  • Hepatitis
  • Lymphopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY WITH POST-MEASLES-MUMPS-RUBELLA VACCINE VIRAL INFECTION

Low match HEME OXYGENASE 1 DEFICIENCY; HMOX1D


Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fever
  • Proteinuria


SOURCES: OMIM MESH MENDELIAN

More info about HEME OXYGENASE 1 DEFICIENCY; HMOX1D

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Skin rash

Symptoms // Phenotype % cases
Fever Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Erythema Rare - less than 30% cases
Pustule Rare - less than 30% cases
Papule Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Skin rash. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Arthritis Proteinuria Psoriasiform dermatitis Thrombocytopenia Hyperkeratosis Hepatomegaly Scarring Onychomadesis Nail pits Acute monocytic leukemia Hepatosplenomegaly Abnormal bleeding Scaling skin Perifollicular erythema Palmoplantar pustulosis Petechiae Epistaxis Abnormal hair pattern Giant platelets Decreased mean platelet volume Seizures Hepatitis Lymphopenia Encephalitis Hyponatremia Pericardial effusion Growth delay Anemia Hemolytic anemia Hematuria Perifollicular hyperkeratosis Nail dystrophy Follicular hyperkeratosis Purpura Abnormality of skin pigmentation Skin vesicle Pain Splenomegaly Pruritus Urticaria Renal insufficiency Immunodeficiency Recurrent respiratory infections Decreased antibody level in blood Recurrent bacterial infections Glomerulonephritis Brittle hair Curly hair Overgrowth Epidermal acanthosis Inflammatory abnormality of the skin Parakeratosis Seborrheic dermatitis Abnormality of metabolism/homeostasis Alopecia Hypotrichosis Nail dysplasia Fine hair Abnormality of the nail Asplenia



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