Failure to thrive, and Palmoplantar keratoderma

Diseases related with Failure to thrive and Palmoplantar keratoderma

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

Top matches:

Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.

SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME Is also known as skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

Related symptoms:

  • Failure to thrive
  • Cardiomyopathy
  • Alopecia
  • Dilated cardiomyopathy
  • Nail dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME

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; EBSB1

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


SOURCES: ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE

Other less relevant matches:

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 DEFICIENCY

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


SOURCES: ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE

Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.

SELF-IMPROVING COLLODION BABY Is also known as shcb|self-improving congenital ichthyosis|self-healing collodion baby|ichthyosis congenita|desquamation of newborn|sici|collodion fetus|icr2|ichthyosis congenita ii|ichthyosis, lamellar, 1, formerly|li1, formerly|lamellar exfoliation of newborn|collodion

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Visual loss
  • Alopecia
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SELF-IMPROVING COLLODION BABY

Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.

CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA Is also known as ichthyosiform erythroderma, nonbullous congenital, 1, formerly|erythrodermic ichthyosis|non-bullous congenital ichthyosiform erythroderma|ncie1, formerly|cie|collodion baby, self-healing|ichthyosiform erythroderma, brocq congenital, nonbullous form, forme

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA

Medium match CEDNIK SYNDROME

CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Palmoplantar keratoderma

Symptoms // Phenotype % cases
Hyperkeratosis Common - Between 50% and 80% cases
Alopecia Common - Between 50% and 80% cases
Nail dystrophy Common - Between 50% and 80% cases
Abnormality of the nail Uncommon - Between 30% and 50% cases
Ichthyosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Palmoplantar keratoderma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Erythroderma Hypotrichosis Erythema Hyperhidrosis Short stature Hearing impairment Abnormal blistering of the skin Scarring Hypohidrosis Skin vesicle Intellectual disability Congenital ichthyosiform erythroderma Feeding difficulties Dry skin Ectodermal dysplasia Flexion contracture Anhidrosis Palmoplantar hyperkeratosis Scaling skin Absent eyebrow Milia Blepharitis Absent eyelashes Nail dysplasia Epidermal acanthosis

Rare Symptoms - Less than 30% cases

Parakeratosis Ectropion Conjunctivitis Everted lower lip vermilion Ectrodactyly Heat intolerance Choanal atresia Intellectual disability, severe Lack of skin elasticity Seizures Hypoplasia of the corpus callosum Agenesis of corpus callosum Wide nasal bridge Macrotia Muscular hypotonia Microcephaly Global developmental delay Corneal erosion Congenital nonbullous ichthyosiform erythroderma Keratitis Abnormality of the hair Small nail Growth delay Cleft palate Camptodactyly Abnormality of the dentition Subungual hyperkeratosis Eclabion Eczema Pruritus Woolly hair Hyperpigmentation of the skin Skin ulcer Sparse eyelashes Atrophic scars Immunodeficiency Abnormality of dental enamel Fragile skin Diffuse palmoplantar keratoderma Cerebellar hypoplasia Microphthalmia Recurrent infections Hernia Kyphosis Inguinal hernia Delayed skeletal maturation Respiratory distress Dilatation Abnormality of the vertebral column Recurrent respiratory infections Severe short stature Frontal bossing Dementia Cerebral cortical atrophy Polydactyly Umbilical hernia Photophobia Hydronephrosis Mental deterioration Abnormality of the kidney Developmental regression Respiratory tract infection Camptodactyly of finger Ventriculomegaly Nystagmus Intrauterine growth retardation Orthokeratosis Keratoconjunctivitis sicca Ichthyosis follicularis Pustule Chronic sinusitis Trismus Abnormal pelvis bone morphology Thin fingernail Pili torti Conical tooth Selective tooth agenesis Skin erosion Plantar hyperkeratosis Ankyloblepharon Myopia Hyperconvex nail Oval face Patchy alopecia Lacrimal duct atresia Bilateral choanal atresia 3-4 toe syndactyly Fibrous syngnathia Vaginal dryness Otitis externa Scoliosis Hip dislocation Cryptorchidism Corneal opacity Talipes Papule Follicular hyperkeratosis Opacification of the corneal stroma Plagiocephaly Alopecia universalis Oxycephaly Thin eyebrow Alopecia totalis Abnormality of the hand Urticaria Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Abnormal eyelid morphology Cheilitis Abnormal eyelash morphology Alopecia of scalp Psoriasiform dermatitis Uveitis Unilateral renal agenesis Submucous cleft hard palate Oligodactyly Bifid scrotum Atonic seizures Intestinal obstruction Hydroureter Mixed hearing impairment Agenesis of permanent teeth Recurrent bacterial infections Platyspondyly Oligohydramnios Scleritis Absent septum pellucidum Astigmatism Hypoplasia of the bladder Pulmonary hypoplasia Cerebral cortical hemiatrophy Paronychia Postaxial polydactyly Brain atrophy Specific learning disability Postaxial hand polydactyly Episcleritis Abnormality of the ribs Abnormality of the upper urinary tract Omphalocele Aganglionic megacolon Hyperconvex fingernails Abnormality of temperature regulation Renal dysplasia Hypoplasia of dental enamel Abnormal nasolacrimal system morphology Abnormal vertebral morphology Multicystic kidney dysplasia Subcortical cerebral atrophy Corneal scarring Hemivertebrae Sparse body hair Syndactyly Supernumerary nipple Paralysis Fatigable weakness Oral leukoplakia Abnormal pattern of respiration Subcutaneous hemorrhage Generalized hyperkeratosis Visual loss Limitation of joint mobility Eosinophilia Desquamation of skin soon after birth Cicatricial lagophthalmos Abnormality of the pinna Open mouth Respiratory insufficiency Short toe External genital hypoplasia Short finger Hypergranulosis Thin nail Ataxia Hypertelorism Sensorineural hearing impairment Abnormal facial shape Depressed nasal bridge Peripheral neuropathy Optic atrophy Ophthalmoparesis Ptosis Congestive heart failure Dystrophic fingernails Dilated cardiomyopathy Abnormality of the cardiovascular system Sparse and thin eyebrow Acantholysis Palmoplantar keratosis with erythema and scale Neoplasm Abnormality of skin pigmentation Abnormality of the fingernails Pyloric stenosis Failure to thrive in infancy Atypical scarring of skin Dystrophic toenail Ridged nail Muscle weakness Thick nail Palmar hyperkeratosis Aplasia/Hypoplasia of the nails Constipation Hypopigmentation of the skin Recurrent skin infections Squamous cell carcinoma of the skin Oral mucosal blisters Chronic diarrhea Epiphora Abnormal eyebrow morphology Furrowed tongue Downslanted palpebral fissures Areflexia Anonychia Otitis media Conductive hearing impairment Abnormality of the nervous system Cleft lip Sparse hair Microtia Toe syndactyly Oral cleft Cleft upper lip Hypoplasia of the maxilla Hypodontia Sepsis Microdontia Micropenis Fine hair Inflammatory abnormality of the skin Split hand Recurrent otitis media Sinusitis Hoarse voice Increased body weight Widely spaced teeth Atresia of the external auditory canal Brittle hair Hammertoe 2-3 toe syndactyly Narrow mouth Patent ductus arteriosus Hypogonadism Pachygyria Proteinuria Abnormality of the eye Stroke Prominent nasal bridge Severe global developmental delay Dolichocephaly Abnormality of eye movement Long face Polymicrogyria Polyneuropathy Nephrotic syndrome Depressed nasal ridge Progressive microcephaly Hypospadias Short chin Intellectual disability, progressive Poor head control Abnormality of vision Cortical dysplasia Abnormality of peripheral nerve conduction Abnormal corpus callosum morphology Perisylvian polymicrogyria Optic disc hypoplasia Pain Ventricular septal defect Cardiomyopathy Unilateral chest hypoplasia


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