Failure to thrive, and Abnormal blistering of the skin
Diseases related with Failure to thrive and Abnormal blistering of the skin
In the following list you will find some of the most common rare diseases related to Failure to thrive and Abnormal blistering of the skin that can help you solving undiagnosed cases.
Top matches:
Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous group of disorders characterized by recurrent blistering and cleavage within basal keratinocytes. Most forms show autosomal dominant inheritance (see, e.g., {131800}, {131760}, and {131900}), but autosomal recessive inheritance has been described (Fine et al., 2008).
Related symptoms:
- Neoplasm
- Hyperkeratosis
- Abnormality of skin pigmentation
- Palmoplantar keratoderma
- Abnormal blistering of the skin
SOURCES: ORPHANET OMIM MENDELIAN
More info about EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1; EBSB1Medium match EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE
Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE Is also known as epidermolysis bullosa simplex, herpetiformis|ebs, generalized severe|epidermolysis bullosa simplex, dowling-meara type
Related symptoms:
- Failure to thrive
- Feeding difficulties
- Constipation
- Nail dystrophy
- Palmoplantar keratoderma
More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.
EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY Is also known as mcgrath syndrome|ectodermal dysplasia-skin fragility syndrome
Related symptoms:
- Failure to thrive
- Immunodeficiency
- Alopecia
- Hyperhidrosis
- Hyperkeratosis
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCYOther less relevant matches:
Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE Is also known as generalized ebs, non-dowling-meara type|epidermolysis bullosa simplex, kÖbner type|generalized epidermolysis bullosa simplex, non-dowling-meara type|ebs, generalized intermediate|epidermolysis bullosa simplex, koebner type
Related symptoms:
- Failure to thrive
- Muscle weakness
- Ptosis
- Respiratory insufficiency
- Hyperhidrosis
More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE
Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.
RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE Is also known as generalized mitis rdeb|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|autosomal recessive dystrophic epidermolysis bullosa, generalized other|rdeb, generalized intermediate|rdeb-generalized other|rdeb, non-hallopeau-siemens type|r
Related symptoms:
- Failure to thrive
- Anemia
- Feeding difficulties
- Dysphagia
- Visual loss
More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE
Medium match ACRODERMATITIS ENTEROPATHICA
Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.
ACRODERMATITIS ENTEROPATHICA Is also known as inherited zinc deficiency|aez|acrodermatitis enteropathica, zinc deficiency type
Related symptoms:
- Short stature
- Failure to thrive
- Visual impairment
- Alopecia
- Cerebral cortical atrophy
More info about ACRODERMATITIS ENTEROPATHICA
Medium match EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA
Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.
EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA Is also known as ebs with pyloric atresia|ebs-pa
Related symptoms:
- Failure to thrive
- Anemia
- Flexion contracture
- Dysphagia
- Short nose
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIAMedium match JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE
Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.
JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE Is also known as epidermolysis bullosa letalis|junctional epidermolysis bullosa, herlitz type|junctional epidermolysis bullosa, herlitz-pearson type|jeb-herlitz type|jeb-h|epidermolysis bullosa junctionalis, herlitz type|epidermolysis bullosa, junctional, herlitz-pearson
Related symptoms:
- Failure to thrive
- Anemia
- Feeding difficulties
- Respiratory insufficiency
- Syndactyly
SOURCES: OMIM ORPHANET MENDELIAN
More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE
- Short stature
- Ataxia
- Failure to thrive
- Visual impairment
- Hepatomegaly
SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZMedium match NEVUS OF ITO
Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.
NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Microcephaly
- Neoplasm
SOURCES: ORPHANET OMIM MENDELIAN
More info about NEVUS OF ITOTop 5 symptoms//phenotypes associated to Failure to thrive and Abnormal blistering of the skin
| Symptoms // Phenotype | % cases |
|---|---|
| Alopecia | Common - Between 50% and 80% cases |
| Milia | Uncommon - Between 30% and 50% cases |
| Skin vesicle | Uncommon - Between 30% and 50% cases |
| Nail dystrophy | Uncommon - Between 30% and 50% cases |
| Hypotrichosis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms
Patients with Failure to thrive and Abnormal blistering of the skin. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Erythema Ridged nail Atrophic scars Abnormality of the nail Skin ulcer Palmoplantar keratoderma Pustule Furrowed tongue Fragile skin Chronic diarrhea Dry skin Malabsorption Oral mucosal blisters Blepharitis Visual impairment Short stature Anemia Abnormal eyebrow morphology Feeding difficulties Corneal erosion Hyperkeratosis Aplasia cutis congenita ParonychiaRare Symptoms - Less than 30% cases
Conjunctivitis Dehydration Anorexia Mitten deformity Respiratory insufficiency Carious teeth Narrow mouth Photophobia Visual loss Weight loss Dysphagia Cerebral cortical atrophy Skin erosion Respiratory failure Neoplasm Emotional lability Nail dysplasia Abnormality of skin pigmentation Pyloric stenosis Ridged fingernail Glossitis Thick nail Cheilitis Sepsis Constipation Hypopigmentation of the skin Hyperpigmentation of the skin Recurrent skin infections Squamous cell carcinoma of the skin Immunodeficiency Hyperhidrosis Esophageal stricture Ectodermal dysplasia Poor appetite Ankyloglossia Pallor Sparse hair Kyphoscoliosis Intellectual disability Recurrent infections Recurrent candida infections Decreased testicular size Inflammatory abnormality of the skin Psoriasiform dermatitis Steatorrhea Alopecia of scalp Impaired T cell function Decreased testosterone in males Decreased taste sensation Low alkaline phosphatase Microphthalmia Increased serum zinc Seizures Microcephaly Strabismus Cataract Spasticity Fever Optic atrophy Abnormality of the dentition Scarring Increased bone mineral density Skin rash Uveitis Retinal vascular proliferation Hyperpigmented streaks Nail pits Retinal hemorrhage Hypohidrotic ectodermal dysplasia Scarring alopecia of scalp Supernumerary ribs Breast aplasia Breast hypoplasia Generalized osteosclerosis Conical tooth Anodontia Hypoplasia of the fovea Abnormality of the vasculature Hypoplastic nipples Papule Supernumerary nipple Hyperostosis Keratitis Coarse hair Eosinophilia Hemivertebrae Irritability Lymphedema Fine hair Nevus Tetraplegia Hypodontia Delayed eruption of teeth Retinal detachment Lethargy Hydronephrosis Hypogonadism Ptosis Abnormal eyelid morphology Abnormality of the anus Squamous cell carcinoma Abnormality of the hair Delayed puberty Generalized hyperkeratosis Subcutaneous hemorrhage Abnormal pattern of respiration Oral leukoplakia Fatigable weakness Ophthalmoparesis Abnormality of dental enamel Muscle weakness Generalized abnormality of skin Woolly hair Absent eyelashes Epiphora Scaling skin Palmoplantar hyperkeratosis Pruritus Aplasia/Hypoplasia of the nails Palmar hyperkeratosis Dystrophic fingernails Dystrophic toenail Atypical scarring of skin Failure to thrive in infancy Abnormality of the fingernails Abnormality of the tongue Flexion contracture Splenomegaly Osteoporosis Diarrhea Tremor Hepatomegaly Ataxia Junctional split Congenital localized absence of skin Laryngeal stridor Laryngeal stenosis Onycholysis Hoarse voice Hypoplasia of dental enamel Dilated cardiomyopathy Dyspnea Syndactyly Short nose Congenital pyloric atresia Aplasia of the bladder Abnormality of the stomach Ureterocele Glomerulosclerosis Abnormality of the outer ear Renal dysplasia Underdeveloped nasal alae Premature birth Limitation of joint mobility Microtia Deeply set eye Polyhydramnios Atrophic, patchy alopeciaIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Ischemic stroke, related diseases and genetic alterations Brachydactyly and Distal muscle weakness, related diseases and genetic alterations Flexion contracture and Joint hypermobility, related diseases and genetic alterations Cognitive impairment and Paresthesia, related diseases and genetic alterations