Carcinoma, and Hypopigmentation of the skin

Diseases related with Carcinoma and Hypopigmentation of the skin

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


Top matches:

Medium match OCULOCUTANEOUS ALBINISM TYPE 6


Oculocutaneous albinism type 6 (OCA6) is a type of oculocutaneous albinism, recently discovered in one Chinese family, characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity and that is due to mutations in the SLC24A5 gene (15q21.1).

OCULOCUTANEOUS ALBINISM TYPE 6 Is also known as oca6

Related symptoms:

  • Nystagmus
  • Strabismus
  • Visual impairment
  • Reduced visual acuity
  • Photophobia


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCUTANEOUS ALBINISM TYPE 6

Medium match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC


Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993).For a general discussion of xeroderma pigmentosum, see XPA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC Is also known as xp, group c|xp3|xpcc|xeroderma pigmentosum iii

Related symptoms:

  • Neoplasm
  • Hyperactivity
  • Photophobia
  • Carcinoma
  • Abnormality of the nervous system


SOURCES: OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

Medium 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

Mendelian

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

Learn more

Other less relevant matches:

Medium match CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME


Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.

CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME Is also known as constitutional mismatch repair deficiency syndrome|mismatch repair deficiency|btps1|cmmr-d syndrome|mmr deficiency|childhood cancer syndrome|btp1 syndrome|cmmrds|turcot syndrome|brain tumor-polyposis syndrome 1

Related symptoms:

  • Neoplasm
  • Agenesis of corpus callosum
  • Carcinoma
  • Leukemia
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME

Medium match PAPILLON-LEFÈVRE SYNDROME


Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.

PAPILLON-LEFÈVRE SYNDROME Is also known as keratosis palmoplantar-periodontopathy syndrome|pls|keratosis palmoplantaris with periodontopathia

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Recurrent respiratory infections
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PAPILLON-LEFÈVRE SYNDROME

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP


Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP

Medium match PORPHYRIA VARIEGATA


Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA VARIEGATA

Medium match MULTIPLE ENDOCRINE NEOPLASIA TYPE 1


Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN (see this term), a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.

MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 Is also known as men1|wermer syndrome|endocrine adenomatosis, multiple|mea i|men i

Related symptoms:

  • Seizures
  • Neoplasm
  • Pain
  • Vomiting
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA TYPE 1

Medium match MULTIPLE ENDOCRINE NEOPLASIA TYPE 4


Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.

MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 Is also known as men4

Related symptoms:

  • Neoplasm
  • Hypertension
  • Diarrhea
  • Diabetes mellitus
  • Hypothyroidism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA TYPE 4

Medium match BENIGN CHRONIC PEMPHIGUS; BCPM


Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Top 5 symptoms//phenotypes associated to Carcinoma and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Erythema Uncommon - Between 30% and 50% cases
Squamous cell carcinoma Uncommon - Between 30% and 50% cases
Melanoma Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Carcinoma and Hypopigmentation of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cutaneous photosensitivity Basal cell carcinoma Hypopigmented skin patches Hypertrichosis Abnormal blistering of the skin Skin rash Cafe-au-lait spot Short stature Pituitary adenoma Growth delay Intellectual disability Vomiting Neoplasm of the skin Pain

Rare Symptoms - Less than 30% cases


Abnormality of the endocrine system Pituitary growth hormone cell adenoma Zollinger-Ellison syndrome Abnormality of the dentition Hyperhidrosis Increased urinary cortisol level Hyperkeratosis Angiofibromas Pituitary corticotropic cell adenoma Seizures Leukemia Hypercalcemia Papule Pituitary null cell adenoma Porphyrinuria Insulinoma Increased glucagon level Confetti-like hypopigmented macules Thyroid adenoma Neuroendocrine neoplasm Fasting hyperinsulinemia Carcinoid tumor Elevated circulating parathyroid hormone level Parathyroid adenoma Primary hyperparathyroidism Growth hormone excess Hyperparathyroidism Peptic ulcer Hyperinsulinemic hypoglycemia Parathyroid hyperplasia Neoplasm of the endocrine system Esophagitis Adrenocortical adenoma Hepatocellular carcinoma Thymoma Pituitary prolactin cell adenoma Subcutaneous lipoma Extrahepatic cholestasis Multiple lipomas Nystagmus Generalized hirsutism Fragile skin Alopecia Visual impairment Photophobia Hypertension Severe vision loss Abdominal pain Abnormality of the kidney Abnormality of the skeletal system Scarring Telangiectasia Nausea Keratitis Poikiloderma Anemia Edema Freckling Increased circulating cortisol level Abnormality of pancreas physiology Thin skin Episodic abdominal pain Clinodactyly Paralysis Elevated alkaline phosphatase Anxiety Constipation Hypoglycemia Motor polyneuropathy Depressivity Fever Peripheral neuropathy Lipoma Weight loss Dark urine Pyloric stenosis Chronic kidney disease Abnormality of the thyroid gland Insomnia Milia Restlessness Aspiration Hallucinations Psychosis Tetraplegia Intestinal obstruction Agitation Premature adrenarche Glucose intolerance Visual hallucinations Tachycardia Neoplasm of the liver Confusion Steatorrhea Nausea and vomiting Adrenocortical carcinoma Hyperaldosteronism Sparse hair Cervix cancer Cataract Feeding difficulties Frontal bossing Prominent forehead Osteoporosis Hypogonadism Osteopenia Postnatal growth retardation Abnormality of skin pigmentation Renal angiomyolipoma Overgrowth Eczema Sparse scalp hair Erythroderma Striae distensae Alopecia of scalp Osteosarcoma Concave nasal ridge Acantholysis Lamellar cataract Pulmonary carcinoid tumor Parathyroid carcinoma Prolactin excess Glucagonoma Neoplasm of the pancreas Peritonitis Pheochromocytoma Bone cyst Schwannoma Adenoma sebaceum Epigastric pain Neurofibrosarcoma Abnormality of the anterior pituitary Anterior pituitary dysgenesis Prolactinoma Testicular neoplasm Pancreatic islet cell adenoma Pancreatic endocrine tumor Diabetes mellitus Hypothyroidism Type II diabetes mellitus Abnormality of the urinary system Thyroiditis Hashimoto thyroiditis Thyroid carcinoma Papillary thyroid carcinoma Muscle weakness Microcephaly Squamous cell carcinoma of the tongue Agenesis of corpus callosum Hyperpigmentation of the skin Cerebral palsy Skin vesicle Scleroderma Atypical scarring of skin Onycholysis Anemia of inadequate production Alcoholism Congenital hypoplastic anemia Facial hypertrichosis Viral hepatitis Hyperpigmentation in sun-exposed areas Neutropenia Hepatitis Sepsis Lymphoma Heterotopia Sarcoma Nephroblastoma Hypermelanotic macule Neurofibromas Colon cancer Multiple cafe-au-lait spots Neuroblastoma Hodgkin lymphoma Acute lymphoblastic leukemia Abnormality of abdomen morphology Inflammatory abnormality of the skin Sudden cardiac death Astrocytoma Abnormal foveal morphology on macular OCT Reduced visual acuity Abnormal bleeding Nevus Thickened skin Abnormality of the hair Melanocytic nevus Albinism Hypoplasia of the fovea Generalized hypopigmentation Papilloma Abnormal fundus morphology Aplasia/Hypoplasia of the macula Abnormal iris pigmentation Actinic keratosis Hepatic steatosis Hyperactivity Abnormality of the nervous system Conjunctivitis Dermal atrophy Systemic lupus erythematosus Ectropion Entropion Squamous cell carcinoma of the skin Cutaneous melanoma Defective DNA repair after ultraviolet radiation damage Abnormality of the liver Cirrhosis Hemolytic anemia Brain neoplasm Intestinal polyposis Pelvic kidney Micrognathia Stomatitis Premature loss of primary teeth Plantar hyperkeratosis Liver abscess Cigarette-paper scars Recurrent cutaneous abscess formation Choroid plexus calcification Severe periodontitis Chronic furunculosis Halitosis Atrophy of alveolar ridges Hearing impairment Strabismus Abnormal facial shape Periodontitis Cryptorchidism Thrombocytopenia Blepharophimosis Bulbous nose Pancytopenia Short palpebral fissure Short thumb Bone marrow hypocellularity Horseshoe kidney Hypoplasia of the radius Absent thumb Absent radius Vitiligo Fragile nails Gingivitis Medulloblastoma Nail dystrophy Rhabdomyosarcoma Glioma Lisch nodules Neoplasm of the central nervous system Intestinal polyp Ependymoma Glioblastoma multiforme Colorectal polyposis Axillary freckling Gray matter heterotopias Acute myelomonocytic leukemia Adenocarcinoma of the colon Recurrent respiratory infections Hypotrichosis Pustule Carious teeth Arachnodactyly Palmoplantar keratoderma Cerebral calcification Abnormality of the nail Abnormality of the fingernails Osteolysis Recurrent skin infections Palmoplantar hyperkeratosis Reduced number of teeth Scaling skin Sparse body hair Premature loss of teeth Acrokeratosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Ulcerative colitis, related diseases and genetic alterations Neuroblastoma and Limb-girdle muscular dystrophy, related diseases and genetic alterations Edema and Left ventricular hypertrophy, related diseases and genetic alterations Cardiomyopathy and Parkinsonism, related diseases and genetic alterations Strabismus and Sparse scalp hair, related diseases and genetic alterations Muscular hypotonia and Limitation of joint mobility, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more