Melanoma, and Osteopenia

Diseases related with Melanoma and Osteopenia

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

Top matches:

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

Related symptoms:

  • Neoplasm
  • Osteopenia
  • Carcinoma
  • Nephrolithiasis
  • Breast carcinoma


SOURCES: OMIM MENDELIAN

More info about HYPERPARATHYROIDISM 4; HRPT4

Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.

GNATHODIAPHYSEAL DYSPLASIA Is also known as gdd|gnathodiaphyseal sclerosis|osteogenesis imperfecta with unusual skeletal lesions

Related symptoms:

  • Scoliosis
  • Osteopenia
  • Recurrent fractures
  • Bowing of the long bones
  • Sinusitis


SOURCES: ORPHANET OMIM MENDELIAN

More info about GNATHODIAPHYSEAL DYSPLASIA

Other less relevant matches:

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

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

Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by Shibata et al., 2015). Genetic Heterogeneity of Familial HyperparathyroidismHyperparathyroidism-2 with jaw tumors (HRPT2 ), also known as the hyperparathyroidism-jaw tumor syndrome (HPT-JT), is also caused by mutation in the CDC73 gene. A locus for HRPT (HRPT3 ) has been mapped to chromosome 2p14-p13.3. HRPT4 (OMIM ) is caused by mutation in the GCM2 gene (OMIM ) on chromosome 6p24. Neonatal severe hyperparathyroidism (NSHPT ) is caused by mutation in the CASR gene (OMIM ) on chromosome 3q.Familial isolated primary hyperparathyroidism occasionally results from incomplete expression of multiple endocrine neoplasia (see MEN1, {131100}).Familial hypocalciuric hypercalcemia (see {145980}) can be confused with familial primary hyperparathyroidism.

HYPERPARATHYROIDISM 1; HRPT1 Is also known as fihp|hyperparathyroidism, familial isolated primary

Related symptoms:

  • Neoplasm
  • Renal insufficiency
  • Osteopenia
  • Carcinoma
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPARATHYROIDISM 1; HRPT1

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

Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term).

JUVENILE HYALINE FIBROMATOSIS Is also known as puretic syndrome|murray-puretic-drescher syndrome|hyalinosis, systemic

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HYALINE FIBROMATOSIS

Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Is also known as oppg|osteogenesis imperfecta, ocular form|ocular form of osteogenesis imperfecta|ops

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2

Related symptoms:

  • Growth delay
  • Cataract
  • Anemia
  • Frontal bossing
  • Diarrhea


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Melanoma and Osteopenia

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Pathologic fracture Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Melanoma and Osteopenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Recurrent fractures Cataract Osteosarcoma Diarrhea

Rare Symptoms - Less than 30% cases

Parathyroid carcinoma Primary hyperparathyroidism Intellectual disability Hyperparathyroidism Hypercalcemia Nephrolithiasis Adrenocortical carcinoma Concave nasal ridge Striae distensae Breast carcinoma Increased susceptibility to fractures Adrenal hyperplasia Squamous cell carcinoma Osteomyelitis Diaphyseal cortical sclerosis Muscle weakness Skeletal muscle atrophy Skeletal dysplasia Obesity Bruising susceptibility Thin skin Sarcoma Hypertension Basal cell carcinoma Poikiloderma Retinoblastoma Growth abnormality Cutaneous photosensitivity Hypogonadism Growth delay Pain Visual impairment Frontal bossing Coarse facial features Joint stiffness Papule Abnormality of the face Subcutaneous nodule Abnormality of the cardiovascular system Amenorrhea Abnormality of the ovary Hirsutism Thickened skin Recurrent infections Chronic diarrhea Hypoglycemia Gingival overgrowth Abnormality of the hair Skin ulcer Cardiac arrest Infertility Ambiguous genitalia Respiratory distress Premature pubarche Renal salt wasting Congenital adrenal hyperplasia Abnormal spermatogenesis Lipoma Osteolysis Decreased fertility Adrenogenital syndrome Adrenal insufficiency Clitoral hypertrophy Astrocytoma Abnormality of the thorax Precocious puberty Polycystic ovaries Azoospermia Reduced amygdala volume Gynecomastia Recurrent urinary tract infections Failure to thrive Flexion contracture Elbow flexion contracture Microcephaly Aplasia/Hypoplasia of the skin Hypotrichosis Retinal dysplasia Glioma Vitreous hemorrhage Iris atrophy Phthisis bulbi Severe platyspondyly Absent anterior chamber of the eye Anemia Nail dystrophy Nausea and vomiting Vitreoretinopathy Neutropenia Palmoplantar keratoderma Microdontia Short thumb Hypoplasia of the radius Brittle hair Myelodysplasia Absent eyebrow Prematurely aged appearance Absent eyelashes Barrel-shaped chest Metaphyseal widening Abnormality of the skull Muscular hypotonia Severe failure to thrive Abnormality of the gastrointestinal tract Gingival fibromatosis Abnormal diaphysis morphology Intractable diarrhea Progressive flexion contractures Global developmental delay Generalized hypotonia Fever Ventricular septal defect Inability to walk Blindness Intellectual disability, mild Microphthalmia Glaucoma Kyphoscoliosis Joint laxity Corneal opacity Platyspondyly Congenital cataract Joint hypermobility Hypospadias Ventricular hypertrophy Polyarticular chondrocalcinosis Thickened cortex of long bones Acantholysis Lamellar cataract Acrokeratosis Scoliosis Bowing of the long bones Sinusitis Increased bone mineral density Fibroma Diaphyseal sclerosis Severe vision loss Broad jaw Mandibular osteomyelitis Polyostotic fibrous dysplasia Ossifying fibroma Myopathy Proximal muscle weakness Limb muscle weakness Bowing of the legs Premature graying of hair Alopecia of scalp Erythroderma Limb-girdle muscle weakness Erythema Feeding difficulties Edema Vomiting Abnormality of the dentition Alopecia Prominent forehead Hyperhidrosis Hyperkeratosis Postnatal growth retardation Sparse hair Skin rash Leukemia Abnormality of skin pigmentation Hypopigmentation of the skin Abnormal blistering of the skin Overgrowth Eczema Sparse scalp hair Telangiectasia Soft skin Fractures of the long bones Elevated alkaline phosphatase of bone origin Hyperphosphaturia Renal insufficiency Abnormality of the kidney Left ventricular hypertrophy Nephrocalcinosis Hypercalciuria Polycystic kidney dysplasia Hypophosphatemia Neoplasm of the endocrine system Elevated circulating parathyroid hormone level Pigmented micronodular adrenocortical disease Generalized osteoporosis Parathyroid adenoma Peptic ulcer Carcinoid tumor Parathyroid hyperplasia Aortic valve calcification Mitral valve calcification Abnormality of the parathyroid gland Calcium nephrolithiasis Paradoxical increased cortisol secretion on dexamethasone suppression test Primary hypercortisolism Limb-girdle muscle atrophy Cerebral cortical atrophy Fibrosarcoma Presenile cataracts Metaphyseal striations Histiocytoma Patchy osteosclerosis Stenosis of the medullary cavity of the long bones Osteomyelitis leading to amputation due to slow healing fractures Kyphosis Depressivity Anxiety Moon facies Mental deterioration Round face Psychosis Hypertrichosis Agitation Truncal obesity Increased circulating cortisol level Mood changes Decreased circulating ACTH level Hypoplasia of teeth


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