Autoimmunity, and Thin skin

Diseases related with Autoimmunity and Thin skin

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


Top matches:

Medium match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

Medium match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Low match EXFOLIATIVE ICHTHYOSIS


Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.

EXFOLIATIVE ICHTHYOSIS Is also known as ichthyosis, bullous type|ichthyosis exfoliativa|autosomal recessive exfoliative ichthyosis

Related symptoms:

  • Edema
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Ichthyosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about EXFOLIATIVE ICHTHYOSIS

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME


Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.

ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME Is also known as baird syndrome|absence of dermatoglyphics-congenital milia syndrome

Related symptoms:

  • Camptodactyly of finger
  • Skin rash
  • Abnormal blistering of the skin
  • Thin skin
  • Thickened skin


SOURCES: ORPHANET MENDELIAN

More info about ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME

Low match AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA


AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as autosomal dominant anhidrotic ectodermal dysplasia|ad-hed

Related symptoms:

  • Abnormality of the dentition
  • Prominent forehead
  • Hypotrichosis
  • Abnormality of skin pigmentation
  • Thick vermilion border


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA

Low match BASAN SYNDROME


Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by Limova et al., 1993).

BASAN SYNDROME Is also known as ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease|adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities

Related symptoms:

  • Flexion contracture
  • Syndactyly
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BASAN SYNDROME

Low match DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME


Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME Is also known as hardcastle syndrome|myopathy, limb-girdle, with bone fragility|bone dysplasia with medullary fibrosarcoma|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome|bone dysplasia-medullary fibrosarcoma syndrome|bdmf|bone dysplasia with maligna

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Osteopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME

Low match PORPHYRIA CUTANEA TARDA


Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

Low match EHLERS-DANLOS SYNDROME TYPE 2


The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). There are both severe and mild forms of classic EDS, previously designated EDS I and EDS II, respectively.For a general phenotypic description and a discussion of genetic heterogeneity of classic EDS, see {130000}.

EHLERS-DANLOS SYNDROME TYPE 2 Is also known as eds ii|eds2, formerly|eds ii, formerly|ehlers danlos syndrome, mitis type, formerly|ehlers danlos syndrome, mild classic type, formerly|ehlers-danlos syndrome, type ii, formerly

Related symptoms:

  • Hypertension
  • Hernia
  • Pectus excavatum
  • Inguinal hernia
  • Gastroesophageal reflux


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 2

Low match SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY


Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.

SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY Is also known as proc deficiency, autosomal recessive|autosomal recessive thrombophilia due to pc deficiency|autosomal recessive thrombophilia due to congenital protein c deficiency|protein c deficiency, autosomal recessive

Related symptoms:

  • Seizures
  • Global developmental delay
  • Blindness
  • Abnormality of skin pigmentation
  • Tetraplegia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY

Top 5 symptoms//phenotypes associated to Autoimmunity and Thin skin

Symptoms // Phenotype % cases
Erythema Uncommon - Between 30% and 50% cases
Skin rash Uncommon - Between 30% and 50% cases
Abnormal blistering of the skin Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Palmoplantar keratoderma Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Autoimmunity and Thin skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypohidrosis Soft skin Bruising susceptibility Skin vesicle Edema

Rare Symptoms - Less than 30% cases


Hernia Premature loss of primary teeth Aplasia/Hypoplasia of the skin Atrophic scars Prominent forehead Fragile skin Peritonitis Inguinal hernia Osteomyelitis Flexion contracture Generalized joint laxity Abnormality of the fingernails Generalized hirsutism Dermal atrophy Cigarette-paper scars Inflammatory abnormality of the skin Global developmental delay Depressed nasal ridge Cutaneous photosensitivity Hepatitis Anemia Abnormal dermatoglyphics Cerebral palsy Micrognathia Papule Neoplasm Hypermelanotic macule Thickened skin Hyperextensible skin Pes planus Carious teeth Milia Scarring Arachnodactyly Recurrent infections Abnormality of the dentition Hyperhidrosis Joint laxity Abnormality of skin pigmentation Joint hyperflexibility Umbilical hernia Amniotic constriction ring Premature graying of hair Proximal muscle weakness Pathologic fracture Sarcoma Limb-girdle muscle weakness Osteosarcoma Fractures of the long bones Hypotrichosis Limb-girdle muscle atrophy Limb muscle weakness Fibrosarcoma Presenile cataracts Metaphyseal striations Bowing of the legs Osteopenia Skeletal dysplasia Sparse body hair Ectodermal dysplasia Tapered finger Nail dystrophy Camptodactyly Epidermal acanthosis Clinodactyly Syndactyly Interphalangeal joint contracture of finger Malignant hyperthermia Cutaneous syndactyly Abnormality of dental morphology Single transverse palmar crease Eczema Epiphora Aplasia cutis congenita Hypodontia Cutaneous syndactyly of toes Thick vermilion border Adermatoglyphia Muscle weakness Skeletal muscle atrophy Myopathy Overfolded helix Short stature Histiocytoma Spastic diplegia Aortic aneurysm Aortic dissection Varicose veins Bladder diverticulum Femoral hernia Abnormal oral cavity morphology Seizures Blindness Tetraplegia Spastic tetraplegia Purpura Venous thrombosis Pulmonary embolism Congenital diaphragmatic hernia Gangrene Deep venous thrombosis Hypercoagulability Abnormality of the cerebral vasculature Venous insufficiency Vitreous hemorrhage Disseminated intravascular coagulation Multifocal seizures Recurrent deep vein thrombosis Superficial thrombophlebitis Reduced protein C activity Priapism Recurrent urinary tract infections Retinal detachment Patchy osteosclerosis Hypopigmented skin patches Stenosis of the medullary cavity of the long bones Diaphyseal cortical sclerosis Osteomyelitis leading to amputation due to slow healing fractures Alopecia Carcinoma Abnormality of the liver Cirrhosis Hemolytic anemia Hepatic steatosis Sudden cardiac death Hypertrichosis Hyperpigmentation of the skin Hepatocellular carcinoma Pectus carinatum Atypical scarring of skin Onycholysis Anemia of inadequate production Alcoholism Congenital hypoplastic anemia Facial hypertrichosis Viral hepatitis Porphyrinuria Hyperpigmentation in sun-exposed areas Hypertension Pectus excavatum Gastroesophageal reflux Scleroderma Abnormality of the hip bone Camptodactyly of finger Atrophy of alveolar ridges Gingivitis Periodontitis Mitral stenosis Chronic pain Poor wound healing Palmoplantar cutis laxa Premature loss of permanent teeth Gingival recession Intestinal perforation Severe periodontitis Alveolar bone loss around teeth Gingival bleeding Intellectual disability Hearing impairment Hypertelorism Abnormal facial shape Ptosis High palate Delayed speech and language development Visual impairment Depressed nasal bridge Hepatomegaly Subarachnoid hemorrhage Premature loss of teeth Intellectual disability, severe Osteoarthritis Pain Dilatation Osteoporosis Arthralgia Arthritis Joint hypermobility Microdontia Blue sclerae Fine hair Mitral regurgitation Striae distensae Tall stature Gingival overgrowth Hoarse voice Vasculitis Joint dislocation Osteolysis Cutis laxa Urticaria Agenesis of permanent teeth Long nose Abnormal joint morphology Downslanted palpebral fissures Vomiting Congenital bullous ichthyosiform erythroderma Chronic lung disease Reduced bone mineral density Systemic lupus erythematosus Psoriasiform dermatitis Increased antibody level in blood Petechiae Elevated erythrocyte sedimentation rate Scoliosis Abnormality of the immune system Prolonged neonatal jaundice Hypoplasia of the zygomatic bone Concave nasal ridge Bilateral single transverse palmar creases White forelock Abnormality of the middle ear Poliosis Facial hirsutism Crusting erythematous dermatitis Diffuse telangiectasia Recurrent cystitis Ichthyosis Erythroderma Lichenification Acantholysis Recurrent pneumonia Low anterior hairline Diarrhea Hepatosplenomegaly Intellectual disability, mild Splenomegaly Short nose Malar flattening Abnormality of metabolism/homeostasis Thrombocytopenia Obesity Recurrent respiratory infections Proptosis High forehead Elevated hepatic transaminase Skin ulcer Pruritus Genu valgum Dry skin Hirsutism Asthma Convex nasal ridge Dehydration Low posterior hairline Abnormal lung morphology Abnormality of retinal pigmentation Lymphedema Warfarin-induced skin necrosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hypoglycemia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more