Arthritis, and Dry skin

Diseases related with Arthritis and Dry skin

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


Top matches:

Medium match SINGLETON-MERTEN SYNDROME 2; SGMRT2


Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Medium match ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT


Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

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Other less relevant matches:

Medium match AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK


Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK

Medium match RIDDLE SYNDROME


A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

Low match AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA


Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.

AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA Is also known as ppkca, stevanovic type|keratoderma-hypotrichosis-leukonychia totalis syndrome|palmoplantar keratoderma and congenital alopecia, stevanovic type|autosomal dominant palmoplantar hyperkeratosis and congenital alopecia|ppk-ca, stevanovic type

Related symptoms:

  • Scoliosis
  • Cataract
  • Flexion contracture
  • Alopecia
  • Hyperhidrosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA

Low match LEOPARD SYNDROME 2; LPRD2


Related symptoms:

  • Short stature
  • Hypertelorism
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 2; LPRD2

Low match SELF-IMPROVING COLLODION BABY


Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.

SELF-IMPROVING COLLODION BABY Is also known as shcb|self-improving congenital ichthyosis|self-healing collodion baby|ichthyosis congenita|desquamation of newborn|sici|collodion fetus|icr2|ichthyosis congenita ii|ichthyosis, lamellar, 1, formerly|li1, formerly|lamellar exfoliation of newborn|collodion

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Visual loss
  • Alopecia
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SELF-IMPROVING COLLODION BABY

Low match AMYLOIDOSIS CUTIS DYSCHROMIA


Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.

AMYLOIDOSIS CUTIS DYSCHROMIA Is also known as amyloidosis cutis dyschromica|acd

Related symptoms:

  • Papule
  • Pruritus
  • Dry skin
  • Hypopigmentation of the skin
  • Abnormal blistering of the skin


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMYLOIDOSIS CUTIS DYSCHROMIA

Low match CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME


ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Dry skin

Symptoms // Phenotype % cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Erythema Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Dry skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Ectodermal dysplasia Ichthyosis Failure to thrive Diarrhea

Rare Symptoms - Less than 30% cases


Immunodeficiency Scaling skin Fever Pneumonia Subungual hyperkeratosis Nail dysplasia Hepatosplenomegaly Global developmental delay Chronic diarrhea Microcephaly Anhidrosis Palmoplantar hyperkeratosis Palmoplantar keratoderma Frontal bossing Papule Photophobia Hypotrichosis Edema Alopecia Abnormal facial shape Hypodontia Cataract Generalized hypotonia Epidermal acanthosis Downslanted palpebral fissures Cubitus valgus Cafe-au-lait spot Thick lower lip vermilion Short neck Mandibular prognathia Hypertrophic cardiomyopathy Depressed nasal bridge Dolichocephaly Webbed neck Epicanthus Dystrophic fingernails Low-set ears Brittle hair Increased sensitivity to ionizing radiation Neonatal asphyxia Chromosomal breakage induced by ionizing radiation Poor hand-eye coordination Scoliosis Abnormality of skin pigmentation Curly hair Hypertelorism Amniotic constriction ring Trichorrhexis nodosa Leukonychia Fingernail dysplasia Trichodysplasia Sclerodactyly Congenital alopecia totalis Abnormality of the sternum Erythroderma Multiple lentigines Pallor Spotty hyperpigmentation Cutaneous amyloidosis Intellectual disability Seizures Myopia Hypertonia Hernia Inguinal hernia Tetraplegia Reticular hyperpigmentation Generalized myoclonic seizures Asthma Brain atrophy Delayed myelination Spastic tetraplegia High myopia Intellectual disability, profound Aspiration Abnormality of visual evoked potentials Spotty hypopigmentation Generalized hyperpigmentation Visual loss Congenital ichthyosiform erythroderma Scarring Nail dystrophy Everted lower lip vermilion Limitation of joint mobility Eosinophilia Ectropion Enuresis nocturna Absent eyebrow Parakeratosis Amyloidosis Lack of skin elasticity Congenital nonbullous ichthyosiform erythroderma Eclabion Desquamation of skin soon after birth Cicatricial lagophthalmos Pruritus Hypopigmentation of the skin Abnormal blistering of the skin Hypermelanotic macule Intraventricular hemorrhage Interstitial pulmonary abnormality Elevated alpha-fetoprotein Lymphocytosis Bronchiectasis Hypohidrosis Leukocytosis Agammaglobulinemia Heat intolerance Conical tooth Concave nasal ridge Anhidrotic ectodermal dysplasia Fine hair Recurrent infection of the gastrointestinal tract Periorbital wrinkles Aplasia of the sweat glands Defective production of NFKB1-dependent cytokines Anemia Respiratory insufficiency Splenomegaly Autoimmunity Sparse scalp hair Sparse hair Keratitis Glaucoma Osteomyelitis Cellulitis Periorbital edema Conical incisor Recurrent streptococcus pneumoniae infections Muscle weakness Abnormality of the skeletal system Abnormality of the dentition Inflammatory abnormality of the skin Respiratory tract infection Mitral regurgitation Aortic valve stenosis Atopic dermatitis Pulmonary edema Calcification of the aorta Delayed speech and language development Recurrent infections Recurrent respiratory infections Hemolytic anemia Atrophic scars Generalized lymphadenopathy Recurrent sinusitis Clumsiness Telangiectasia Recurrent pneumonia Emotional lability Pulmonary fibrosis Restrictive ventilatory defect Bronchitis IgA deficiency Specific learning disability Episodic fever IgG deficiency Chronic sinusitis Mild global developmental delay Recurrent viral infections Demyelinating peripheral neuropathy IgM deficiency Conjunctival telangiectasia Abnormal lung morphology Otitis media Autoimmune hemolytic anemia Polyarticular arthritis Thyroiditis Keratoconjunctivitis sicca Uveitis Antinuclear antibody positivity Follicular hyperkeratosis Villous atrophy Corneal neovascularization Increased IgA level Comedo Abnormality of the cerebral white matter Punctate keratitis Ataxia Neoplasm Gait disturbance Headache Abdominal pain Respiratory failure Weight loss Drusen



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