Arthritis, and Hyperkeratosis

Diseases related with Arthritis and Hyperkeratosis

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


Top matches:

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 PSORIASIS 2; PSORS2


Related symptoms:

  • Fever
  • Hyperkeratosis
  • Arthralgia
  • Arthritis
  • Ichthyosis


SOURCES: OMIM MENDELIAN

More info about PSORIASIS 2; PSORS2

Low match ULERYTHEMA OPHRYOGENESIS


Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

Related symptoms:

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Alopecia
  • Arthritis
  • Erythema


SOURCES: ORPHANET OMIM MENDELIAN

More info about ULERYTHEMA OPHRYOGENESIS

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Other less relevant matches:

Low 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

Low 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

Low match RAMON SYNDROME


A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.

RAMON SYNDROME Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAMON SYNDROME

Low match HARLEQUIN ICHTHYOSIS


Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.

HARLEQUIN ICHTHYOSIS Is also known as ichthyosis congenita, harlequin type|'harlequin fetus'|ichthyosis congenita, harlequin fetus type|harlequin ichthyosis|ichthyosis fetalis, harlequin type|hi

Related symptoms:

  • Global developmental delay
  • Cataract
  • Respiratory insufficiency
  • Recurrent respiratory infections
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HARLEQUIN ICHTHYOSIS

Low match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Low match BUSCHKE-OLLENDORFF SYNDROME


Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Low match COMPLEMENT COMPONENT 7 DEFICIENCY; C7D


COMPLEMENT COMPONENT 7 DEFICIENCY; C7D Is also known as c7 deficiency

Related symptoms:

  • Fever
  • Arthritis
  • Telangiectasia
  • Meningitis
  • Vasculitis


SOURCES: OMIM MESH MENDELIAN

More info about COMPLEMENT COMPONENT 7 DEFICIENCY; C7D

Top 5 symptoms//phenotypes associated to Arthritis and Hyperkeratosis

Symptoms // Phenotype % cases
Arthralgia Uncommon - Between 30% and 50% cases
Inflammatory abnormality of the skin Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Papule Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Atopic dermatitis Ichthyosis Short stature Epidermal acanthosis

Rare Symptoms - Less than 30% cases


Seborrheic dermatitis Pain Telangiectasia Hyperhidrosis Respiratory insufficiency Failure to thrive Growth delay Dry skin Abnormality of the dentition Edema Parakeratosis Skin rash Comedo Follicular hyperkeratosis Hearing impairment Psoriasiform dermatitis Erythema Thickened skin Limitation of joint mobility Diffuse skin atrophy Skeletal muscle atrophy Pectus excavatum Rheumatoid arthritis Patent foramen ovale Clubbing Foot polydactyly Acne Disproportionate tall stature Thickened calvaria Hypergranulosis Growth hormone excess Joint swelling Heart block Flushing Osteolytic defects of the phalanges of the hand Clubbing of fingers Long clavicles Wide cranial sutures Hip pain Eczematoid dermatitis Arthropathy Palmoplantar hyperkeratosis Redundant skin Periostosis Neoplasm Cleft palate Congenital nonbullous ichthyosiform erythroderma Lack of skin elasticity Congenital ichthyosiform erythroderma Ptosis High palate Patent ductus arteriosus Malignant hyperthermia Abnormal heart morphology Delayed skeletal maturation Hearing abnormality Osteopenia Coarse facial features Large fontanelles Wormian bones Eclabion Osteoporosis Abnormality of epiphysis morphology Subperiosteal bone formation Meningitis Abnormal cortical bone morphology Generalized osteosclerosis Abnormal aortic morphology Generalized limb muscle atrophy Abnormal bone structure Osteopoikilosis Connective tissue nevi Complete duplication of the distal phalanges of the hand Abnormal axial skeleton morphology Vasculitis Atypical scarring of skin Raynaud phenomenon Complement deficiency Pyoderma Sclerodactyly Vasculitis in the skin Subcutaneous calcification Recurrent meningococcal disease Recurrent meningitis C8 deficiency Generalized hypopigmentation Cutaneous finger syndactyly Strabismus Nevus Visual impairment Hypertension Renal insufficiency Skeletal dysplasia Myalgia Joint stiffness Craniosynostosis Palmoplantar keratoderma Recurrent fractures Abnormality of the metaphysis Scleroderma Subcutaneous nodule Erythroderma Lymphedema Bone pain Hoarse voice Hemangioma Flat occiput Hyperostosis Multiple lipomas Short finger Recurrent respiratory infections Self-injurious behavior Hemolytic anemia Pulmonary edema Calcification of the aorta Anemia Diarrhea Splenomegaly Hepatosplenomegaly Photophobia Autoimmunity Chronic diarrhea Mitral regurgitation Keratitis Atrophic scars Autoimmune hemolytic anemia Thyroiditis Keratoconjunctivitis sicca Uveitis Antinuclear antibody positivity Villous atrophy Aortic valve stenosis Glaucoma Increased IgA level Spinal muscular atrophy Overgrowth Dermal atrophy Scaling skin Orthokeratosis Alopecia Scarring Hypotrichosis Sparse eyebrow Epiphora Abnormality of the skeletal system Aplasia/Hypoplasia of the skin Absent eyelashes Abnormal eyebrow morphology Folliculitis Sunken cheeks Abnormal perifollicular morphology Generalized hypotonia Muscle weakness Abnormal facial shape Corneal neovascularization Polyarticular arthritis Ectropion Proptosis Gingival fibromatosis Abnormal anterior chamber morphology Angiokeratoma Axenfeld anomaly Enlarged labia minora Global developmental delay Cataract Respiratory failure Rigidity Telangiectasia of the skin Small for gestational age Everted lower lip vermilion Sepsis Sudden cardiac death Premature birth Dehydration Depressed nasal ridge Recurrent skin infections Hand polydactyly Juvenile rheumatoid arthritis Osteolysis Punctate keratitis Retinopathy Intellectual disability Seizures Scoliosis Sensorineural hearing impairment Kyphosis Diabetes mellitus Conductive hearing impairment Pallor Abnormality of skin pigmentation Abnormality of dental enamel Delayed eruption of teeth Full cheeks Pigmentary retinopathy Optic disc pallor Hypertrichosis Decreased body weight Abnormality of retinal pigmentation Generalized hirsutism Narrow palate Pyoderma gangrenosum



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