Flexion contracture, and Hyperkeratosis

Diseases related with Flexion contracture and Hyperkeratosis

In the following list you will find some of the most common rare diseases related to Flexion contracture and Hyperkeratosis that can help you solving undiagnosed cases.

Top matches:

Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda (see this term).

PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE Is also known as ppk, nagashima type|palmoplantar hyperkeratosis, nagashima type

Related symptoms:

  • Flexion contracture
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Palmoplantar keratoderma


SOURCES: ORPHANET OMIM MENDELIAN

More info about PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE

Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.

ISOLATED CONGENITAL ADERMATOGLYPHIA Is also known as congenital absence of fingerprints|immigration delay disease|fingerprints, absence of

Related symptoms:

  • Flexion contracture
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis
  • Ectodermal dysplasia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ISOLATED CONGENITAL ADERMATOGLYPHIA

FRA12A is a folate-sensitive chromosomal fragile site prone to breakage. No consistent phenotype has been observed with FRA12A, and it can be inherited without phenotypic effect (Berg et al., 2000). However, mental retardation with or without other anomalies has been described in patients with over 40% of cells expressing FRA12A (Winnepenninckx et al., 2007).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Behavioral abnormality
  • Hyperkeratosis
  • Arthrogryposis multiplex congenita


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, FRA12A TYPE

Other less relevant matches:

Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term).

ICHTHYOSIS HYSTRIX OF CURTH-MACKLIN Is also known as ichthyosis hystrix, curth-macklin type

Related symptoms:

  • Flexion contracture
  • Abnormality of metabolism/homeostasis
  • Hyperkeratosis
  • Nail dystrophy
  • Ichthyosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ICHTHYOSIS HYSTRIX OF CURTH-MACKLIN

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3; ARCI3 Is also known as li5, formerly|collodion baby, self-healing|ichthyosis, lamellar, 5, formerly

Related symptoms:

  • Flexion contracture
  • Alopecia
  • Hyperkeratosis
  • Erythema
  • Scarring


SOURCES: OMIM MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3; ARCI3

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

Related symptoms:

  • Flexion contracture
  • Alopecia
  • Hyperkeratosis
  • Erythema
  • Scarring


SOURCES: OMIM MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10; ARCI10

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8; ARCI8 Is also known as lamellar ichthyosis, late-onset|ichthyosis, lamellar, 4, formerly|li4, formerly

Related symptoms:

  • Flexion contracture
  • Alopecia
  • Hyperkeratosis
  • Erythema
  • Scarring


SOURCES: OMIM MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8; ARCI8

EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE Is also known as epidermolysis bullosa junctionalis, progressive|epidermolysis bullosa junctionalis, non-herlitz type|epidermolysis bullosa junctionalis, disentis type|epidermolysis bullosa junctionalis, severe nonlethal|epidermolysis bullosa, generalized atrophic benign|

Related symptoms:

  • Abnormality of the dentition
  • Alopecia
  • Scarring
  • Camptodactyly of finger
  • Nail dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE

Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.

AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA Is also known as ppkca, stevanovic type|keratoderma-hypotrichosis-leukonychia totalis syndrome|palmoplantar keratoderma and congenital alopecia, stevanovic type|autosomal dominant palmoplantar hyperkeratosis and congenital alopecia|ppk-ca, stevanovic type

Related symptoms:

  • Scoliosis
  • Cataract
  • Flexion contracture
  • Alopecia
  • Hyperhidrosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6; ARCI6 Is also known as ichthyosis, congenital, autosomal recessive, nipal4-related

Related symptoms:

  • Flexion contracture
  • Dilatation
  • Alopecia
  • Hyperkeratosis
  • Erythema


SOURCES: OMIM MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6; ARCI6

Top 5 symptoms//phenotypes associated to Flexion contracture and Hyperkeratosis

Symptoms // Phenotype % cases
Erythroderma Common - Between 50% and 80% cases
Erythema Common - Between 50% and 80% cases
Palmoplantar keratoderma Common - Between 50% and 80% cases
Alopecia Common - Between 50% and 80% cases
Ichthyosis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Flexion contracture and Hyperkeratosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Nail dystrophy

Uncommon Symptoms - Between 30% and 50% cases

Subungual hyperkeratosis Scarring Eclabion Congenital nonbullous ichthyosiform erythroderma Congenital ichthyosiform erythroderma Anhidrosis Absent eyebrow Ectropion Hypergranulosis Hyperhidrosis Hypohidrosis Epidermal acanthosis

Rare Symptoms - Less than 30% cases

Parakeratosis Nail dysplasia Skin vesicle Orthokeratosis Ectodermal dysplasia Generalized ichthyosis Clubbing Milia Palmoplantar hyperkeratosis Loss of eyelashes Plantar hyperkeratosis Fragile nails Atrophic scars Oral mucosal blisters Dermal atrophy Hypotrichosis Palmar hyperhidrosis Scoliosis Cataract Dry skin Abnormality of skin pigmentation Brittle hair Dystrophic fingernails Amniotic constriction ring Trichorrhexis nodosa Leukonychia Fingernail dysplasia Trichodysplasia Sclerodactyly Congenital alopecia totalis Hypoplasia of dental enamel Pterygium Abnormal blistering of the skin Clinodactyly Palmar hyperkeratosis Adermatoglyphia Acral blistering Intellectual disability Seizures Behavioral abnormality Arthrogryposis multiplex congenita Pulmonic stenosis Abnormality of metabolism/homeostasis Recurrent skin infections Hypodontia Diffuse palmoplantar keratoderma Autoamputation of digits Bleeding with minor or no trauma Maceration Orthokeratotic hyperkeratosis Palmoplantar hyperhidrosis Scaling skin Abnormality of the dentition Camptodactyly of finger Carious teeth Dilatation


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