Carcinoma, and Hypertrichosis

Diseases related with Carcinoma and Hypertrichosis

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


Top matches:

High match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1


Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1 ), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical DiseaseSee also PPNAD2 (OMIM ), caused by mutation in the PDE11A gene (OMIM ) on chromosome 2q31; PPNAD3 (OMIM ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13; and PPNAD4 (OMIM ), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (OMIM ).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 Is also known as pigmented micronodular adrenocortical disease, primary, 1|cushing syndrome, adrenal, due to ppnad1|adrenocortical nodular dysplasia, primary

Related symptoms:

  • Neoplasm
  • Hypertension
  • Kyphosis
  • Obesity
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1

High 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

High match ADRENOCORTICAL CARCINOMA


Adrenocortical carcinoma (ACC) is a cancer that arises from the adrenal cortex.

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADRENOCORTICAL CARCINOMA

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Other less relevant matches:

High 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

High 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

High match PAPILLOMA OF CHOROID PLEXUS; CPP


Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

Medium match FAMILIAL CUTANEOUS TELANGIECTASIA AND OROPHARYNGEAL CANCER PREDISPOSITION SYNDROME


Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome is a rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.

FAMILIAL CUTANEOUS TELANGIECTASIA AND OROPHARYNGEAL CANCER PREDISPOSITION SYNDROME Is also known as telangiectasia, cutaneous, and cancer syndrome, familial

Related symptoms:

  • Neoplasm
  • Alopecia
  • Carcinoma
  • Carious teeth
  • Convex nasal ridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL CUTANEOUS TELANGIECTASIA AND OROPHARYNGEAL CANCER PREDISPOSITION SYNDROME

Medium match SCHÖPF-SCHULZ-PASSARGE SYNDROME


Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.

SCHÖPF-SCHULZ-PASSARGE SYNDROME Is also known as palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis|eccrine tumors with ectodermal dysplasia|ssps|palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypot

Related symptoms:

  • Neoplasm
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Carcinoma


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SCHÖPF-SCHULZ-PASSARGE SYNDROME

Medium match ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY


Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol biosynthesis. In about 95% of cases, 21-hydroxylation is impaired in the zona fasciculata of the adrenal cortex so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. Because of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors, particularly 17-OHP, proximal to the block. This causes excessive production of androgens, resulting in virilization.Slominski et al. (1996) presented evidence that the CYP21A2, CYP11A1 (OMIM ), CYP17 (OMIM ), and ACTHR (OMIM ) genes are expressed in skin (see {202200}). The authors suggested that expression of these genes may play a role in skin physiology and pathology and that cutaneous proopiomelanocortin activity may be autoregulated by a feedback mechanism involving glucocorticoids synthesized locally.

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY Is also known as cyp21 deficiency|21-hydroxylase deficiency|congenital adrenal hyperplasia 1|cah1|adrenal hyperplasia iii

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypertension
  • Fever
  • Obesity


SOURCES: OMIM MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

Medium match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1


Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormality of the dentition
  • Thrombocytopenia
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1

Top 5 symptoms//phenotypes associated to Carcinoma and Hypertrichosis

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
Onycholysis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hyperhidrosis Nail dystrophy Carious teeth Adrenocortical carcinoma Thin skin Squamous cell carcinoma Anxiety Hypopigmented skin patches Depressivity

Rare Symptoms - Less than 30% cases


Hyperkeratosis Fragile skin Hepatocellular carcinoma Small nail Porphyrinuria Muscle weakness Pain Thin nail Abdominal pain Ridged nail Abnormality of the dentition Fever Vomiting Hypotrichosis Telangiectasia Palmoplantar keratoderma Neoplasm of the skin Palmoplantar hyperkeratosis Generalized hirsutism Premature loss of primary teeth Plantar hyperkeratosis Seizures Short stature Nausea Basal cell carcinoma Abnormality of the skeletal system Hyperpigmentation of the skin Paradoxical increased cortisol secretion on dexamethasone suppression test Agitation Osteopenia Osteoporosis Obesity Erythema Cirrhosis Increased circulating cortisol level Striae distensae Psychosis Adrenal hyperplasia Cutaneous photosensitivity Abnormal blistering of the skin Choroid plexus carcinoma Renal cell carcinoma Convex nasal ridge Hypoplasia of dental enamel Breast carcinoma Cerebral cortical atrophy Hypodontia Abnormality of the eye Aplasia/Hypoplasia of the eyebrow Patchy alopecia Onychomycosis Choroid plexus papilloma Kyphosis Ectodermal dysplasia Sebaceous gland carcinoma Ovarian neoplasm Osteosarcoma Papilloma High forehead Feeding difficulties Talipes equinovarus Hydrocephalus Atrial septal defect Headache Recurrent infections Midface retrusion Pneumonia Respiratory failure Micropenis Hydronephrosis Facial telangiectasia Apnea Delayed eruption of teeth Macroglossia Sleep apnea Increased intracranial pressure Loss of consciousness Upper limb undergrowth Papilledema Broad neck Choanal stenosis Broad ribs Toenail dysplasia Narrow nail Trichodysplasia Sparse scalp hair Abnormal spermatogenesis Adrenogenital syndrome Premature pubarche Reduced amygdala volume Microcephaly Thrombocytopenia Abnormality of skin pigmentation Nail dysplasia Microdontia Pancytopenia Hepatic fibrosis Abnormality of the ovary Bone marrow hypocellularity Sparse eyelashes Pterygium Epiphora Pulmonary fibrosis Oral leukoplakia Aplastic anemia Poikiloderma Nasolacrimal duct obstruction Esophageal stricture Decreased mean platelet volume Congenital adrenal hyperplasia Astrocytoma Bird-like facies Ambiguous genitalia Abnormality of primary teeth Cryptorchidism Apocrine hidrocystoma Poroma Hypospadias Hypoglycemia Infertility Hirsutism Amenorrhea Abnormality of the cardiovascular system Recurrent urinary tract infections Renal salt wasting Gynecomastia Azoospermia Growth abnormality Polycystic ovaries Sarcoma Precocious puberty Abnormality of the thorax Clitoral hypertrophy Adrenal insufficiency Decreased fertility Lipoma Low-set ears Neoplasm of the liver Abnormal facial shape Increased serum androstenedione Lung adenocarcinoma Increased urinary cortisol level Panic attack Increased circulating androgen level Abnormality of urine homeostasis Increased serum estradiol Abnormality of reproductive system physiology Elevated serum 11-deoxycortisol Abnormal serum dehydroepiandrosterone level Edema Adrenocorticotropic hormone deficiency Recurrent respiratory infections Anemia Papule Pigmented micronodular adrenocortical disease Primary hypercortisolism Arachnodactyly Moon facies Cerebral calcification Abnormality of the nail Abnormality of the fingernails Pollakisuria Hyperaldosteronism Decreased circulating ACTH level Viral hepatitis Cerebral palsy Skin vesicle Hepatitis Scleroderma Atypical scarring of skin Sudden cardiac death Anemia of inadequate production Alcoholism Congenital hypoplastic anemia Facial hypertrichosis Hepatic steatosis Hypokalemia Hyperpigmentation in sun-exposed areas Hemolytic anemia Abnormality of metabolism/homeostasis Skin rash Diabetes mellitus Abnormality of the liver Weight loss Irritability Palpitations Increased body weight Osteolysis Melanoma Hypertelorism Tetraplegia Clinodactyly Constipation Abnormality of the kidney Paralysis Scarring Nausea and vomiting Confusion Mental deterioration Tachycardia Hypopigmentation of the skin Hallucinations Bruising susceptibility Aspiration Chronic kidney disease Milia Restlessness Insomnia Visual hallucinations Inflammatory abnormality of the skin Motor polyneuropathy Dark urine Premature adrenarche Diarrhea Round face Recurrent skin infections Stomatitis Mood changes Reduced number of teeth Scaling skin Keratitis Sparse body hair Premature loss of teeth Pustule Gingivitis Periodontitis Fragile nails Liver abscess Peripheral neuropathy Cigarette-paper scars Recurrent cutaneous abscess formation Choroid plexus calcification Severe periodontitis Chronic furunculosis Halitosis Atrophy of alveolar ridges Truncal obesity Growth delay Nystagmus Pterygium of nails



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