Abnormal facial shape, and Abnormal blistering of the skin

Diseases related with Abnormal facial shape and Abnormal blistering of the skin

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


Top matches:

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT


Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Low match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Low match PEELING SKIN SYNDROME 2; PSS2


Peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In an acral form of the disorder (PSS2), the dorsa of the hands and feet are predominantly affected, and ultrastructural analysis shows separation at the junction between the granular cells and the stratum corneum in the outer epidermis (summary by Cassidy et al., 2005).For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (OMIM ).

PEELING SKIN SYNDROME 2; PSS2 Is also known as acral peeling skin syndrome|peeling skin syndrome, acral type|apss

Related symptoms:

  • Hyperhidrosis
  • Erythema
  • Scarring
  • Pruritus
  • Abnormal blistering of the skin


SOURCES: OMIM MENDELIAN

More info about PEELING SKIN SYNDROME 2; PSS2

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND


Related symptoms:

  • Cardiomyopathy
  • Hyperkeratosis
  • Scarring
  • Muscular dystrophy
  • Papule


SOURCES: OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND

Low match EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED


Epidermolysis bullosa simplex is a clinically and genetically heterogeneous skin disorder characterized by blistering of the skin following minor physical trauma as a result of cytolysis within the basal epidermal cells. Most forms show autosomal dominant inheritance. The localized form is characterized by localized blistering primarily on the hands and feet (Pfendner et al., 2005). The other 2 main types of EBS include the milder generalized Koebner type (OMIM ) and the more severe Dowling-Meara type (OMIM ). All 3 forms can be caused by mutation in the KRT5 or KRT14 genes (summary by Fine et al., 2008).

EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED Is also known as epidermolysis bullosa of hands and feet|epidermolysis bullosa simplex, weber-cockayne type|ebs, acral form

Related symptoms:

  • Hyperkeratosis
  • Abnormal blistering of the skin
  • Milia
  • Palmoplantar blistering


SOURCES: OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED

Low match AMYLOIDOSIS CUTIS DYSCHROMIA


Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.

AMYLOIDOSIS CUTIS DYSCHROMIA Is also known as amyloidosis cutis dyschromica|acd

Related symptoms:

  • Papule
  • Pruritus
  • Dry skin
  • Hypopigmentation of the skin
  • Abnormal blistering of the skin


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMYLOIDOSIS CUTIS DYSCHROMIA

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA


Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.

JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA Is also known as inverse jeb|jeb-i|ebj-i

Related symptoms:

  • Nail dystrophy
  • Abnormal blistering of the skin
  • Milia
  • Atrophic scars


SOURCES: ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA

Low match SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS


Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.

SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS Is also known as ichthyosis bullosa of siemens|sei

Related symptoms:

  • Edema
  • Erythema
  • Ichthyosis
  • Palmoplantar keratoderma
  • Abnormal blistering of the skin


SOURCES: ORPHANET MENDELIAN

More info about SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS

Low match PSEUDOXANTHOMATOUS DIFFUSE CUTANEOUS MASTOCYTOSIS


Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.

PSEUDOXANTHOMATOUS DIFFUSE CUTANEOUS MASTOCYTOSIS Is also known as infiltrative small vesicular dcm|infiltrative small vesicular diffuse cutaneous mastocytosis|pseudoxanthomatous dcm

Related symptoms:

  • Abnormal blistering of the skin
  • Cutaneous mastocytosis


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOXANTHOMATOUS DIFFUSE CUTANEOUS MASTOCYTOSIS

Low match KERATOLYTIC WINTER ERYTHEMA


Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.

KERATOLYTIC WINTER ERYTHEMA Is also known as oudtshoorn disease|oudtshoorn skin disease|erythrokeratolysis hiemalis

Related symptoms:

  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Pruritus
  • Abnormal blistering of the skin


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about KERATOLYTIC WINTER ERYTHEMA

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormal blistering of the skin

Symptoms // Phenotype % cases
Erythema Uncommon - Between 30% and 50% cases
Pruritus Uncommon - Between 30% and 50% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Scarring Rare - less than 30% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormal facial shape and Abnormal blistering of the skin. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Hyperhidrosis Papule Microcephaly Narrow mouth Hypertelorism Muscular hypotonia Hypermelanotic macule Milia Prominent forehead Cardiomyopathy Neuroblastoma Anteriorly placed anus Abnormality of the immune system Absent septum pellucidum Submucous cleft hard palate Aortic root aneurysm Abnormal heart valve morphology Slender long bone Spinal canal stenosis Telangiectasia of the skin Foot polydactyly Congenital hypothyroidism Self-mutilation Abnormal lung lobation Abnormality of the gastrointestinal tract Delayed CNS myelination Dilation of lateral ventricles Abnormality of the testis 11 pairs of ribs Abnormality of the neck Lower limb asymmetry Optic nerve coloboma Missing ribs Epileptic spasms Short 5th finger Ocular albinism Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia High hypermetropia Arnold-Chiari type I malformation Overweight Infantile spasms Congenital sensorineural hearing impairment Macule Generalized hirsutism Leukoencephalopathy Hypercholesterolemia Cranial nerve paralysis Abnormal intestine morphology Spastic tetraparesis Narrow palpebral fissure Pointed chin Aplasia/Hypoplasia of the corpus callosum Wide anterior fontanel Short phalanx of finger Stereotypy Telangiectasia Large fontanelles Decreased body weight Bicuspid aortic valve Sacral dimple Polyphagia Self-injurious behavior Dysphasia Delayed cranial suture closure Metatarsus adductus Hemiplegia/hemiparesis Redundant neck skin Clitoral hypertrophy Hand polydactyly Scrotal hypoplasia Failure to thrive in infancy Patent foramen ovale Pyloric stenosis Abnormality of vision Delayed gross motor development Infantile muscular hypotonia Volvulus Abnormal renal physiology Left ventricular noncompaction Abnormality of the renal pelvis Plantar hyperkeratosis Skin vesicle Muscular dystrophy Scaling skin Agenesis of the anterior commissure Solitary renal cyst Abnormality of the cerebral ventricles Dry skin Abnormal parietal bone morphology Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Widened subarachnoid space Palmoplantar blistering Hypopigmentation of the skin Ebstein anomaly of the tricuspid valve Palmoplantar keratoderma Pustule Inflammatory abnormality of the skin Epidermal acanthosis Cutaneous mastocytosis Acantholysis Thin skin Ichthyosis Amyloidosis Edema Atrophic scars Cutaneous amyloidosis Spotty hyperpigmentation Spotty hypopigmentation Reticular hyperpigmentation Generalized hyperpigmentation Abnormality of the femoral neck Bifid ribs Abnormality of the spleen Abnormality of chromosome stability Abnormality of female external genitalia Lambdoidal craniosynostosis Impaired social interactions Abnormal corpus callosum morphology Periventricular leukomalacia Cavum septum pellucidum Biliary tract abnormality Gastric ulcer Abnormal left ventricle morphology Pachygyria Colpocephaly Thickened helices Rib fusion Delayed closure of the anterior fontanelle Abnormality of the mandible Abnormality of the anus Hypoplastic female external genitalia Talipes valgus Abnormality of the hairline Oppositional defiant disorder Asymmetry of the ears Noncompaction cardiomyopathy Cranial nerve VI palsy Abnormal social behavior Abnormal external genitalia Abnormality of the optic disc Horizontal eyebrow Hypoplastic labia minora Muscle flaccidity Annular pancreas Aortic arch aneurysm Abnormality of brain morphology Expressive language delay Heterotopia Ventricular hypertrophy Mitral regurgitation High palate Cognitive impairment Low-set ears Cryptorchidism Cataract Cleft palate Muscle weakness Delayed speech and language development Sensorineural hearing impairment Strabismus Micrognathia Failure to thrive Nystagmus Growth delay Scoliosis Feeding difficulties Visual impairment Generalized hypotonia Dysphagia Hydrocephalus Hypoplasia of the corpus callosum Anteverted nares Ventriculomegaly Ventricular septal defect Abnormality of the skeletal system Frontal bossing Depressed nasal bridge Gait disturbance Downslanted palpebral fissures Optic atrophy Myopia Wide nasal bridge Brachydactyly Epicanthus Hearing impairment Short stature Myopathy Narrow chest Abnormal lung morphology Sparse scalp hair Fine hair Nephrotic syndrome Cyanosis Round face Respiratory tract infection Gynecomastia Proteinuria Macrotia Recurrent respiratory infections Pneumonia Renal insufficiency Respiratory distress Fever Sparse and thin eyebrow Recurrent pneumonia Global developmental delay Onycholysis Seizures Intellectual disability Junctional split Respiratory acidosis Crossed fused renal ectopia Decreased glomerular filtration rate Tubular atrophy Sparse eyelashes Fragile skin Interstitial pulmonary abnormality Ectopic kidney Focal segmental glomerulosclerosis Neonatal respiratory distress Glomerulosclerosis Hypoalbuminemia Atrial septal defect Behavioral abnormality Hypertrichosis Abnormality of the cerebral white matter Polymicrogyria Oral cleft Cleft upper lip Poor speech Synophrys Hypermetropia Dilated cardiomyopathy Short foot Small for gestational age Neurological speech impairment Microtia Camptodactyly of finger Abnormal cardiac septum morphology Coloboma Blepharophimosis Hepatic steatosis Renal cyst Joint stiffness Optic disc pallor Depressed nasal ridge Tetraparesis Interphalangeal joint contracture of finger Hypsarrhythmia Abnormality of the ribs Coarctation of aorta Hypoplasia of penis Bifid uvula Tetralogy of Fallot Epileptic encephalopathy Hip dysplasia Abnormality of the skin Intestinal malrotation Delayed myelination Brain atrophy Abnormality of the liver Abnormality of the pinna Kyphosis Clinodactyly Pes cavus Agenesis of corpus callosum Constipation Clinodactyly of the 5th finger Delayed skeletal maturation Patent ductus arteriosus Hypospadias Upslanted palpebral fissure Obesity Absent speech Abnormality of cardiovascular system morphology Midface retrusion Cerebral atrophy Malar flattening Long philtrum Posteriorly rotated ears Hypogonadism Feeding difficulties in infancy Conductive hearing impairment Abnormality of the eye Camptodactyly Abnormality of the kidney Low-set, posteriorly rotated ears Aggressive behavior Hydronephrosis Neonatal hypotonia Deeply set eye Brachycephaly EEG abnormality Gastroesophageal reflux Mandibular prognathia Hypothyroidism Autism Micropenis Cerebral cortical atrophy Palmoplantar erythema



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Nevus, related diseases and genetic alterations Delayed speech and language development and Arrhythmia, related diseases and genetic alterations Delayed speech and language development and Dystonia, related diseases and genetic alterations Myopathy and Vomiting, related diseases and genetic alterations Strabismus and Alopecia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more