Peripheral neuropathy, and Squamous cell carcinoma

Diseases related with Peripheral neuropathy and Squamous cell carcinoma

In the following list you will find some of the most common rare diseases related to Peripheral neuropathy and Squamous cell carcinoma that can help you solving undiagnosed cases.


Top matches:

Low match XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX


Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

Low match XERODERMA PIGMENTOSUM


Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

Low match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

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Other less relevant matches:

Low match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB


For a general discussion of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB Is also known as xp, group b|xpbc

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

Low match LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME


LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.

LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME Is also known as lcps

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Congestive heart failure
  • Sparse hair
  • Ventricular hypertrophy


SOURCES: ORPHANET MENDELIAN

More info about LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME

Low match DYSKERATOSIS CONGENITA


Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Low match SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC


Cancer of the head and neck that begins in squamous cells (thin, flat cells that form the surface of the skin, eyes, various internal organs, and the lining of hollow organs and ducts of some glands). Squamous cell carcinoma of the head and neck includes cancers of the nasal cavity, sinuses, lips, mouth, salivary glands, throat, and larynx (voice box). Most head and neck cancers are squamous cell carcinomas.

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Squamous cell carcinoma


SOURCES: OMIM MENDELIAN

More info about SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC

Low match DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS


Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.

DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS Is also known as porokeratosis, disseminated superficial actinic, 2|dsap2

Related symptoms:

  • Carcinoma
  • Pruritus
  • Cutaneous photosensitivity
  • Squamous cell carcinoma
  • Porokeratosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS

Low match CERVICAL CANCER


The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cervical cancer is caused by a virus called HPV. The virus spreads through sexual contact. Most women's bodies are able to fight HPV infection. But sometimes the virus leads to cancer. You're at higher risk if you smoke, have had many children, use birth control pills for a long time, or have HIV infection. Cervical cancer may not cause any symptoms at first. Later, you may have pelvic pain or bleeding from the vagina. It usually takes several years for normal cells in the cervix to turn into cancer cells. Your health care provider can find abnormal cells by doing a Pap test to examine cells from the cervix. You may also have an HPV test. If your results are abnormal, you may need a biopsy or other tests. By getting regular screenings, you can find and treat any problems before they turn into cancer. Treatment may include surgery, radiation therapy, chemotherapy, or a combination. The choice of treatment depends on the size of the tumor, whether the cancer has spread and whether you would like to become pregnant someday. Vaccines can protect against several types of HPV, including some that can cause cancer. NIH: National Cancer Institute

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Squamous cell carcinoma
  • Papilloma
  • Abnormality of the cervical spine


SOURCES: OMIM MENDELIAN

More info about CERVICAL CANCER

Low match EPIDERMODYSPLASIA VERRUCIFORMIS


Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.

EPIDERMODYSPLASIA VERRUCIFORMIS Is also known as lutz-lewandowsky epidermodysplasia verruciformis|lewandowsky-lutz syndrome

Related symptoms:

  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Papule
  • Neoplasm of the skin
  • Hypopigmented skin patches


SOURCES: ORPHANET OMIM MENDELIAN

More info about EPIDERMODYSPLASIA VERRUCIFORMIS

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Squamous cell carcinoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Dermal atrophy Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and Squamous cell carcinoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Ataxia Cataract Telangiectasia of the skin Squamous cell carcinoma of the skin Basal cell carcinoma Cutaneous photosensitivity Melanoma Prematurely aged appearance Premature graying of hair Intellectual disability Hypopigmented skin patches Alopecia Retinopathy Hypogonadism Optic atrophy Neoplasm of the skin Hyperkeratosis Abnormality of the dentition

Rare Symptoms - Less than 30% cases


Hypertension Hypermelanotic macule Macule Freckling Blepharitis Papilloma Bone marrow hypocellularity Skin ulcer Congestive heart failure Scleroderma Porokeratosis Sparse hair Cutaneous melanoma Abnormality of the testis Progeroid facial appearance Global developmental delay Aplasia/Hypoplasia of the skin Osteoporosis Lipoatrophy Myelodysplasia Atherosclerosis Sparse scalp hair Retinal degeneration Leukemia Diabetes mellitus Decreased testicular size Premature loss of teeth Dry skin Anemia Poikiloderma Spasticity Sensorineural hearing impairment Scoliosis Arteriosclerosis Loss of eyelashes Coronary artery stenosis Intrauterine growth retardation Pulmonary carcinoid tumor Aortic atherosclerosis Abnormality of the intrahepatic bile duct Growth delay Hepatomegaly Papillary renal cell carcinoma Immunodeficiency Splenomegaly Abnormality of the pulmonary artery Thrombocytopenia Cerebellar hypoplasia Recurrent respiratory infections Hyperhidrosis Nail dystrophy Carious teeth Malabsorption Abnormality of skin pigmentation Cirrhosis Hepatic failure Palmoplantar keratoderma Recurrent fractures Mitral valve calcification EEG abnormality Alopecia universalis Ventricular hypertrophy Ventriculomegaly Intellectual disability, severe Cerebellar atrophy Microphthalmia Severe short stature Pigmentary retinopathy Abnormality of the cardiovascular system Decreased nerve conduction velocity Basal ganglia calcification Abnormal CNS myelination Increased cellular sensitivity to UV light Cardiomyopathy Hypertriglyceridemia Premature skin wrinkling Mitral regurgitation Aortic valve stenosis Hypercholesterolemia Intracranial hemorrhage Absent eyebrow Emphysema Coronary artery atherosclerosis Aplasia/Hypoplasia of the eyebrow Reduced subcutaneous adipose tissue Exertional dyspnea Aortic root aneurysm Absent eyelashes Hypodontia Nail dysplasia Hypoplasia of the maxilla Esophageal stenosis Urethral stenosis Abnormality of neutrophils Interstitial pneumonitis Aplastic/hypoplastic toenail Nystagmus Rough bone trabeculation Nail pits Reticular hyperpigmentation Anorectal anomaly Congenital bullous ichthyosiform erythroderma Displacement of the external urethral meatus Palmar hyperkeratosis Absent lacrimal punctum Testicular atrophy Pruritus Abnormality of the cervical spine Cervical polyp Abnormality of metabolism/homeostasis Papule Recurrent skin infections Multiple cafe-au-lait spots Abnormality of the immune system Pustule Verrucae Seborrheic dermatitis Skin plaque Abnormality of the pharynx Cellular immunodeficiency Lymphoma Pulmonary fibrosis Acral lentiginous melanoma Abnormal blistering of the skin Specific learning disability Cerebral calcification Pancytopenia Hyperpigmentation of the skin Hepatic fibrosis Lymphopenia Abnormality of the fingernails Abnormal intestine morphology Tracheoesophageal fistula Epiphora Abnormality of coagulation Abnormality of female internal genitalia Neurofibromas Skin vesicle Aseptic necrosis Abnormal eyelash morphology Neoplasm of the pancreas Abnormal eyebrow morphology Taurodontia Periodontitis White hair Oral leukoplakia Aplastic anemia Ridged nail Hyperreflexia Neoplasm of the small intestine Aplasia/Hypoplasia of the testes Proptosis Defective DNA repair after ultraviolet radiation damage Neoplasm of the eye Flat nasal alae Pain Visual impairment Skeletal muscle atrophy Strabismus Behavioral abnormality Rod-cone dystrophy Failure to thrive Micropenis Joint stiffness Cryptorchidism Seizures Numerous pigmented freckles Nephropathy Small hand Hypopigmentation of the skin Coma Chest pain Convex nasal ridge Type II diabetes mellitus Myocardial infarction Abnormality of amino acid metabolism Decreased body weight Ankyloblepharon Conjunctival telangiectasia Insulin resistance Opacification of the corneal stroma Developmental regression Erythema Photophobia Abnormality of extrapyramidal motor function Choreoathetosis Thin skin Telangiectasia Thickened skin Abnormal vertebral morphology Arthralgia Aminoaciduria Conjunctivitis Intellectual disability, progressive Entropion Cerebral cortical atrophy Reduced tendon reflexes Delayed skeletal maturation Pterygium Ectropion Melanocytic nevus Keratitis Hyporeflexia Fatigue Fever Cognitive impairment Craniofacial hyperostosis Abnormality of retinal pigmentation Abnormality of the hair Neoplasm of the oral cavity Slender build Posterior subcapsular cataract Skin rash Meningioma Renal neoplasm Osteosarcoma Abnormality of the cerebral vasculature Peripheral arterial stenosis Lack of skin elasticity Chondrocalcinosis Pili torti Hydrocephalus White forelock Neoplasm of the lung Thyroid carcinoma Enlarged joints Narrow nasal ridge Dysarthria Chorioretinitis Soft tissue sarcoma Abnormal hair whorl Poliosis Subcutaneous calcification Mental deterioration Gastrointestinal carcinoma Premature arteriosclerosis Pulmonary artery stenosis Alopecia of scalp Narrow face Polydipsia Increased bone mineral density Hoarse voice Hypergonadotropic hypogonadism Spontaneous abortion Type I diabetes mellitus Macular degeneration Demyelinating peripheral neuropathy Breast carcinoma Laryngomalacia Sarcoma Lipodystrophy Abnormality of the voice Abnormality of the thorax Subcapsular cataract Rocker bottom foot Polyuria High pitched voice Urticaria Polyphagia Decreased fertility Cachexia Diplopia Confusion Myeloid leukemia Secondary amenorrhea Ovarian neoplasm Verruca plana



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