Flexion contracture, and Ichthyosis

Diseases related with Flexion contracture and Ichthyosis

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


Top matches:

Low match BATHING SUIT ICHTHYOSIS


Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.

BATHING SUIT ICHTHYOSIS Is also known as bsi

Related symptoms:

  • Ichthyosis


SOURCES: ORPHANET MENDELIAN

More info about BATHING SUIT ICHTHYOSIS

Low match ACRAL SELF-HEALING COLLODION BABY


Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities.

ACRAL SELF-HEALING COLLODION BABY Is also known as acral shcb

Related symptoms:

  • Ichthyosis


SOURCES: ORPHANET MENDELIAN

More info about ACRAL SELF-HEALING COLLODION BABY

Low match ICHTHYOSIS HYSTRIX OF CURTH-MACKLIN


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

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Other less relevant matches:

Low match 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 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

Low match 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 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

Low match ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8; ARCI8


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

Low match AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA


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

Low match ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6; ARCI6


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

Low match ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9; ARCI9


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
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema


SOURCES: OMIM MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9; ARCI9

Low match ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5


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 5; ARCI5 Is also known as ichthyosis congenita iii|ichthyosis, lamellar, 3, formerly|li3, formerly|nnci|ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive

Related symptoms:

  • Flexion contracture
  • Renal insufficiency
  • Alopecia
  • Hyperkeratosis
  • Erythema


SOURCES: OMIM MESH MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5

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

Symptoms // Phenotype % cases
Hyperkeratosis Common - Between 50% and 80% cases
Palmoplantar keratoderma Common - Between 50% and 80% cases
Erythema Common - Between 50% and 80% cases
Alopecia Common - Between 50% and 80% cases
Nail dystrophy Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Erythroderma

Uncommon Symptoms - Between 30% and 50% cases


Subungual hyperkeratosis

Common Symptoms - More than 50% cases


Eclabion

Uncommon Symptoms - Between 30% and 50% cases


Scarring

Common Symptoms - More than 50% cases


Ectropion

Uncommon Symptoms - Between 30% and 50% cases


Absent eyebrow

Common Symptoms - More than 50% cases


Anhidrosis

Uncommon Symptoms - Between 30% and 50% cases


Congenital ichthyosiform erythroderma

Common Symptoms - More than 50% cases


Congenital nonbullous ichthyosiform erythroderma

Uncommon Symptoms - Between 30% and 50% cases


Epidermal acanthosis Hypergranulosis Hypohidrosis

Rare Symptoms - Less than 30% cases


Orthokeratosis Generalized ichthyosis Parakeratosis Hyperhidrosis Scaling skin Melanocytic nevus Congenital alopecia totalis Dilatation Clubbing Abnormality of metabolism/homeostasis Pruritus Nevus Prematurely aged appearance Trichodysplasia Lichenification Facial erythema Renal insufficiency Sepsis Dehydration Acute kidney injury Acanthocytosis Sclerodactyly Fingernail dysplasia Bleeding with minor or no trauma Dry skin Autoamputation of digits Diffuse palmoplantar keratoderma Skin vesicle Scoliosis Cataract Recurrent skin infections Hypotrichosis Abnormality of skin pigmentation Leukonychia Ectodermal dysplasia Nail dysplasia Palmoplantar hyperkeratosis Brittle hair Dystrophic fingernails Amniotic constriction ring Trichorrhexis nodosa Hypernatremic dehydration



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