Immunodeficiency, and Thin skin

Diseases related with Immunodeficiency and Thin skin

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

Top matches:

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

High match CUSHING DISEASE

Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Other less relevant matches:

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Low match CHILBLAIN LUPUS

Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE ) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006). Genetic Heterogeneity of Chilblain LupusSee also CHBL2 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20q11.Mutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, {225750} and AGS5, {612952}, respectively).

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Arthralgia
  • Abnormality of skin pigmentation
  • Hypopigmentation of the skin


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILBLAIN LUPUS

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

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

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

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

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Diabetes mellitus Osteoporosis Cataract Short stature Telangiectasia of the skin Failure to thrive Carious teeth Sparse scalp hair Cryptorchidism Seizures Recurrent infections Visual impairment Anxiety Hearing impairment Pancytopenia Recurrent fractures Sparse eyelashes Epiphora Hyperkeratosis Premature graying of hair Leukemia Alopecia Scoliosis Growth delay Skeletal muscle atrophy Anemia Truncal obesity Intrauterine growth retardation Dermal atrophy Hypoplasia of the maxilla Ataxia Abnormality of the dentition Hypodontia Generalized hyperpigmentation Aseptic necrosis Abnormality of skin pigmentation Blepharitis Hypertension

Rare Symptoms - Less than 30% cases

Inguinal hernia Premature loss of teeth Aplasia/Hypoplasia of the skin Urethral stenosis Hypertelorism Memory impairment Abnormality of the testis Oral leukoplakia Abdominal obesity Aplastic anemia Ridged nail Striae distensae Cellular immunodeficiency Kyphosis Testicular atrophy Obesity Edema Abnormal intestine morphology Micropenis Strabismus Palmoplantar keratoderma Cirrhosis Nail dystrophy Truncal ataxia Cerebellar hypoplasia Thrombocytopenia Telangiectasia Abnormal blistering of the skin Global developmental delay Hypoplasia of the thymus Skin ulcer Nail pits Hypopigmentation of the skin Carcinoma Lymphoma Conjunctivitis Abnormality of coagulation Myelodysplasia Pulmonary fibrosis Blepharophimosis Chromosome breakage Short philtrum Small for gestational age Toe syndactyly Onychomycosis Cerebral calcification Hodgkin lymphoma Bone marrow hypocellularity Nail dysplasia Myeloid leukemia Oligohydramnios Lymphopenia Hyperpigmentation of the skin Metrorrhagia Muscle weakness Pituitary adenoma Sparse and thin eyebrow Fatigue Reticular hyperpigmentation Congenital bullous ichthyosiform erythroderma Generalized hypotonia Heat intolerance Adrenal hyperplasia Taurodontia Intention tremor Hypoplastic nipples Decreased testicular size Tremor Gait disturbance Ventriculomegaly Hypohidrosis Myopathy Hypertonia Microdontia Ectodermal dysplasia Delayed puberty Hypospadias Neurological speech impairment Sparse hair Respiratory tract infection Gait ataxia Intellectual disability, severe Respiratory distress Fever Depressed nasal bridge Cardiomyopathy Anodontia Headache Premature ovarian insufficiency Round face Depressivity Nephrolithiasis Generalized hirsutism Venous thrombosis Sleep disturbance Bruising susceptibility Recurrent skin infections Infertility Hypokalemia Lipodystrophy Psychosis Acne Bipolar affective disorder Lethargy Visual loss Abdominal pain Menorrhagia Abnormality of the pinna Bulbous nose Dystonia Myoclonus Joint hypermobility Intellectual disability, moderate Open bite Joint hyperflexibility Large hands Cerebellar atrophy Flexion contracture Spasticity Dysarthria Synophrys Cubitus valgus Camptodactyly of finger Nystagmus Cachexia Peripheral neuropathy Cognitive impairment Wide mouth Short palm Cortical dysplasia Cerebellar vermis atrophy Restlessness Relative macrocephaly Scaphocephaly Down-sloping shoulders Acanthosis nigricans Sandal gap Distal lower limb amyotrophy Abnormal hair pattern Narrow palpebral fissure Gynecomastia Short thumb Broad-based gait Thick lower lip vermilion Biparietal narrowing Tics Abnormality of toe Abnormality of the musculature Panhypopituitarism Abnormality of earlobe Cortical gyral simplification Small earlobe Interphalangeal joint contracture of finger Hypoplasia of penis Prominent nose Mood swings Macroglossia Short foot Small hand Moderately short stature Polymicrogyria Pneumonia IgA deficiency Difficulty walking Defective B cell differentiation Decreased fetal movement Gastrointestinal hemorrhage Gliosis Sepsis Postnatal growth retardation Muscular hypotonia of the trunk Hepatosplenomegaly Cerebral cortical atrophy Hyporeflexia Optic atrophy IgE deficiency Leukopenia Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Horseshoe kidney Anosmia Abnormal spermatogenesis Phimosis Lichenification Erythroderma Ichthyosis Erythema Anal mucosal leukoplakia Pterygium of nails Split nail Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Reticulated skin pigmentation Abnormal leukocyte morphology Pterygium Pancreatic adenocarcinoma Lacrimal duct stenosis Keratoconjunctivitis Esophageal stricture Excessive wrinkled skin Acute myeloid leukemia Restrictive ventilatory defect Increased antibody level in blood Flared metaphysis Squamous cell carcinoma Neonatal respiratory distress Elevated alpha-fetoprotein Neoplasm of the breast Elevated hepatic transaminase Apraxia Oculomotor apraxia Recurrent pneumonia Abnormality of the hair Abnormal vertebral morphology Sinusitis Cafe-au-lait spot Limb ataxia Bronchiectasis Choreoathetosis Type II diabetes mellitus Hepatitis Cerebral palsy Decreased antibody level in blood Chorea Progressive cerebellar ataxia Abnormal cerebellum morphology Polyneuropathy Distal amyotrophy Unsteady gait Abnormality of movement Abnormality of eye movement Distal muscle weakness Abnormality of the liver Reduced tendon reflexes Breast carcinoma Chronic myelogenous leukemia Acute lymphoblastic leukemia Conjunctival telangiectasia Abnormality of chromosome stability Chronic lymphatic leukemia Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder B-cell lymphoma Renal neoplasm Recurrent bronchitis Recurrent lower respiratory tract infections Severe combined immunodeficiency Hepatocellular carcinoma Slurred speech Hypopigmentation of hair Aggressive behavior Prematurely aged appearance Abnormality of the immune system Multiple cafe-au-lait spots Resting tremor Combined immunodeficiency Glucose intolerance Athetosis Spinal muscular atrophy Polycystic ovaries Joint laxity Neoplasm of the skin EEG abnormality Cleft palate Telecanthus Hydronephrosis Conductive hearing impairment Photophobia Polydactyly Posteriorly rotated ears Syndactyly Malar flattening Primary hypercortisolism Microtia Macronodular adrenal hyperplasia Dorsocervical fat pad Moon facies Mood changes Decreased circulating ACTH level Neoplasm of the endocrine system Increased circulating cortisol level Subarachnoid hemorrhage Cleft lip Abnormality of the foot Agitation Omphalocele Hand polydactyly Preaxial polydactyly Abnormality of the urinary system Abnormality of the genitourinary system Oligodontia Hypogonadotrophic hypogonadism Renal dysplasia Abnormality of the genital system Split hand Anal atresia Choanal atresia Renal agenesis Growth hormone deficiency Vesicoureteral reflux Broad nasal tip Pulmonary hypoplasia Oral cleft Cleft upper lip Orthostatic hypotension Increased body weight Hydroureter Underdeveloped nasal alae Brittle hair Prominent supraorbital ridges Dysphonia Short chin Type I diabetes mellitus Hoarse voice Depressed nasal ridge Eczema Delayed eruption of teeth Anhidrosis Everted lower lip vermilion Thick vermilion border Short distal phalanx of finger Dry skin Hypotrichosis Prominent forehead Short nose Frontal bossing Absent eyebrow Aplasia/Hypoplasia of the eyebrow Hypotension Abnormal oral mucosa morphology Hirsutism Mental deterioration Osteopenia Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Periorbital hyperpigmentation Periorbital wrinkles Everted upper lip vermilion Hypohidrotic ectodermal dysplasia Agenesis of permanent teeth Anhidrotic ectodermal dysplasia Absent nipple Concave nail Anterior hypopituitarism Conical tooth Soft skin Absent eyelashes Rhinitis Sparse body hair Keratitis Absent septum pellucidum Pes planus Squamous cell carcinoma of the skin Palmar hyperkeratosis Displacement of the external urethral meatus Anorectal anomaly Rough bone trabeculation Porokeratosis Aplastic/hypoplastic toenail Interstitial pneumonitis Abnormality of neutrophils Abnormality of the pharynx Absent lacrimal punctum Abnormality of female internal genitalia White hair Periodontitis Abnormal eyebrow morphology Neoplasm of the pancreas Abnormal eyelash morphology Skin vesicle Macule Esophageal stenosis Micrognathia Hypermelanotic macule Behavioral abnormality Coarse facial features High forehead Mandibular prognathia Hyperactivity Hypogonadism Pes cavus Clinodactyly of the 5th finger Absent speech Hypoplasia of the corpus callosum Abnormal facial shape Short neck Downslanted palpebral fissures Macrocephaly Brachydactyly Epicanthus Motor delay Delayed speech and language development High palate Muscular hypotonia Neurofibromas Tracheoesophageal fistula Hypopituitarism Dysuria Duplicated collecting system Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Sparse pubic hair Rectovaginal fistula Sparse axillary hair Ureterocele Generalized hypopigmentation Fair hair Blue irides Depressed nasal tip Bilateral cleft lip Split foot Xerostomia Ectrodactyly Abnormality of the nasopharynx Semilobar holoprosencephaly Hypopigmented skin patches Antinuclear antibody positivity Feeding difficulties Abnormality of the fingernails Hepatic fibrosis Specific learning disability Hepatic failure Malabsorption Splenomegaly Hepatomegaly Raynaud phenomenon Dacryocystitis Systemic lupus erythematosus Abnormality of the nail Cutaneous photosensitivity Arthralgia Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Urethral atresia Acantholysis


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