Anemia, and Palmoplantar keratoderma

Diseases related with Anemia and Palmoplantar keratoderma

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


Top matches:

Low match EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE K14


Epidermolysis bullosa simplex, autosomal recessive K14 (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or, less frequently, localized acral blistering.

EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE K14 Is also known as krt14-related autosomal recessive ebs|krt14-related autosomal recessive epidermolysis bullosa simplex|ebs-ar krt14|ebs, autosomal recessive k14

Related symptoms:

  • Growth delay
  • Anemia
  • Carious teeth
  • Ichthyosis
  • Palmoplantar keratoderma


SOURCES: ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE K14

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE


Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.

JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE Is also known as junctional epidermolysis bullosa, disentis type|generalized junctional epidermolysis bullosa, non-herlitz type|gabeb|jeb-nh gen|jeb, generalized intermediate|generalized atrophic benign epidermolysis bullosa|junctional epidermolysis bullosa generalisata m

Related symptoms:

  • Growth delay
  • Anemia
  • Nail dystrophy
  • Abnormality of skin pigmentation
  • Palmoplantar keratoderma


SOURCES: ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE

Low match EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM


Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The Dowling-Meara type of EBS is the most severe form, with generalized blistering that often occurs in clusters (herpetiform), is often associated with hyperkeratosis of the palms and soles, and shows clumping of keratin filaments in basal epidermal cells. The other 2 main types of EBS include the milder generalized Koebner type (OMIM ) and the milder and localized Weber-Cockayne type (OMIM ) (Fine et al., 2008). All 3 forms can be caused by mutation in the KRT5 or the KRT14 gene. See {601001} for a rare autosomal recessive form caused by mutation in the KRT14 gene.

EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM Is also known as epidermolysis bullosa simplex, generalized severe|epidermolysis bullosa herpetiformis, dowling-meara type

Related symptoms:

  • Growth delay
  • Anemia
  • Hyperkeratosis
  • Scarring
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM

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Other less relevant matches:

Low match ROTHMUND-THOMSON SYNDROME TYPE 2


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

Low match SRD5A3-CDG


SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

SRD5A3-CDG Is also known as cdg1q|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|congenital disorder of glycosylation type iq|cdg-iq|congenital disorder of glycosylation type 1q|cdg syndrome type iq|cdg iq|cdgiq

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SRD5A3-CDG

Low match PACHYDERMOPERIOSTOSIS


Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.

PACHYDERMOPERIOSTOSIS Is also known as touraine-solente-gole syndrome|pdp

Related symptoms:

  • Scoliosis
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about PACHYDERMOPERIOSTOSIS

Low match KINDLER SYNDROME


Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.

KINDLER SYNDROME Is also known as poikiloderma, hereditary acrokeratotic|poikiloderma of kindler|poikiloderma, congenital, with bullae, weary type|bullous acrokeratotic poikiloderma of kindler and weary|ks

Related symptoms:

  • Anemia
  • Flexion contracture
  • Dysphagia
  • Syndactyly
  • Hyperkeratosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about KINDLER SYNDROME

Low match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

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 KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3


KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 Is also known as kpps3|keratoderma, palmoplantar, striate form iii|striate palmoplantar keratoderma iii|sppk3

Related symptoms:

  • Palmoplantar keratoderma


SOURCES: OMIM MESH MENDELIAN

More info about KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3

Top 5 symptoms//phenotypes associated to Anemia and Palmoplantar keratoderma

Symptoms // Phenotype % cases
Growth delay Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
Abnormal blistering of the skin Uncommon - Between 30% and 50% cases
Carious teeth Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Palmoplantar keratoderma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Milia Atrophic scars Inflammatory abnormality of the skin Abnormality of skin pigmentation Ichthyosis Hearing impairment Hepatomegaly Splenomegaly Cutaneous photosensitivity Abnormality of the fingernails Skin vesicle Global developmental delay Hypoplasia of dental enamel Aplasia/Hypoplasia of the skin

Rare Symptoms - Less than 30% cases


Dry skin Recurrent respiratory infections Hypertelorism Abnormal facial shape Depressed nasal bridge Elevated hepatic transaminase Eczema Abnormality of coagulation Scoliosis Ptosis Skin ulcer Osteoporosis Thrombocytopenia Dermal atrophy Hyperhidrosis Malabsorption Ridged nail Neoplasm of the skin Osteomyelitis Aseptic necrosis Eczematoid dermatitis Erythema Intellectual disability Pruritus Papule Periodontitis Diarrhea Scarring Nail dysplasia Palmoplantar hyperkeratosis Cataract Squamous cell carcinoma Poikiloderma Myelodysplasia Concave nasal ridge Generalized hirsutism Reduced bone mineral density Abnormality of the immune system Psoriasiform dermatitis Increased antibody level in blood Petechiae Elevated erythrocyte sedimentation rate Recurrent pneumonia Abnormality of the hip bone Systemic lupus erythematosus Chronic lung disease Prolonged neonatal jaundice Hypoplasia of the zygomatic bone Low anterior hairline White forelock Abnormality of the middle ear Poliosis Facial hirsutism Crusting erythematous dermatitis Diffuse telangiectasia Recurrent cystitis Short stature Microcephaly Ataxia Bilateral single transverse palmar creases Hypoplasia of teeth Anonychia High forehead Intellectual disability, severe Vomiting Intellectual disability, mild Short nose Malar flattening Recurrent infections Abnormality of metabolism/homeostasis Aplasia cutis congenita Obesity Sparse body hair Prominent forehead Proptosis Hepatosplenomegaly Lymphedema Skin rash Genu valgum Arachnodactyly Hirsutism Asthma Convex nasal ridge Dehydration Hepatitis Low posterior hairline Depressed nasal ridge Thin skin Abnormal lung morphology Neoplasm Abnormality of retinal pigmentation Abnormality of the dentition Intrauterine growth retardation Squamous cell carcinoma of the skin Blepharitis Neoplasm of the pancreas Abnormal eyebrow morphology Taurodontia White hair Abnormality of the testis Oral leukoplakia Aplastic anemia Abnormality of female internal genitalia Cellular immunodeficiency Testicular atrophy Abnormality of the pharynx Urethral stenosis Premature loss of teeth Abnormality of neutrophils Interstitial pneumonitis Aplastic/hypoplastic toenail Porokeratosis Rough bone trabeculation Nail pits Reticular hyperpigmentation Anorectal anomaly Congenital bullous ichthyosiform erythroderma Displacement of the external urethral meatus Palmar hyperkeratosis Esophageal stenosis Abnormal eyelash morphology Telangiectasia of the skin Visual impairment Specific learning disability Immunodeficiency Alopecia Cerebellar hypoplasia Diabetes mellitus Sparse hair Leukemia Cirrhosis Hepatic failure Recurrent fractures Hypodontia Hypoplasia of the maxilla Lymphoma Cerebral calcification Macule Pancytopenia Hyperpigmentation of the skin Hepatic fibrosis Lymphopenia Bone marrow hypocellularity Abnormal intestine morphology Hypopigmented skin patches Tracheoesophageal fistula Epiphora Pulmonary fibrosis Premature graying of hair Hypermelanotic macule Neurofibromas Downslanted palpebral fissures Acral blistering Delayed speech and language development Gynecomastia Neutropenia Arthralgia Coarse facial features Arthritis Nausea and vomiting Small hand Limitation of joint mobility Gastrointestinal hemorrhage Thickened skin Abnormality of epiphysis morphology Bone pain Hypotrichosis Short thumb Osteolysis Skeletal dysplasia Cerebral palsy Genu varum Acne Osteopenia Hypogonadism Joint swelling Growth hormone excess Neoplasm of the lung Abnormal hair pattern Abnormal cortical bone morphology Microdontia Edema Peptic ulcer Coloboma Generalized hypotonia Osteosarcoma Nystagmus Absent eyelashes Low-set ears Motor delay Prematurely aged appearance Cerebellar atrophy Visual loss Abnormal heart morphology Brachycephaly Basal cell carcinoma Polymicrogyria Hypoplasia of the radius Cerebellar vermis hypoplasia Hypertrichosis Cutis laxa Oligodontia Optic nerve hypoplasia Erythroderma Absent eyebrow Microcytic anemia Type I transferrin isoform profile Anterior pituitary hypoplasia Reduced antithrombin III activity Brittle hair Seborrheic dermatitis Abnormal hair quantity High palate Abnormality of the anus Esophagitis Abnormal toenail morphology Corneal erosion Short 4th metacarpal Amniotic constriction ring Scarring alopecia of scalp Short 5th metacarpal Ankyloglossia Premature loss of primary teeth Cheilitis Esophageal stricture Overbite Laryngeal stenosis Gingivitis Urethral stricture Spotty hypopigmentation Phimosis Spotty hyperpigmentation Severe photosensitivity Symblepharon Overjet Diffuse skin atrophy Seizures Telangiectases in sun-exposed and nonexposed skin Neoplasm of the urethra Micrognathia Oral mucosal blisters Atypical scarring of skin Abnormality of bone marrow cell morphology Abnormality of the ribs Cutis gyrata of scalp Clubbing of toes Impaired temperature sensation Flexion contracture Dysphagia Syndactyly Carcinoma Frontal bossing Camptodactyly of finger Corneal opacity Finger syndactyly Hypopigmentation of the skin Telangiectasia Abnormality of the skull Abnormality of dental enamel Conjunctivitis Recurrent skin infections Sepsis Abnormality of the hand Ectropion Inflammation of the large intestine Colitis Fragile skin Cutaneous finger syndactyly Gingival bleeding Turricephaly Absent lacrimal punctum



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