Flexion contracture, and Epidermal acanthosis

Diseases related with Flexion contracture and Epidermal acanthosis

In the following list you will find some of the most common rare diseases related to Flexion contracture and Epidermal acanthosis 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

Epidermolysis bullosa simplex due to exophilin 5 deficiency is a rare, hereditary, basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.

EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO EXOPHILIN 5 DEFICIENCY Is also known as ebs-ar exophilin 5

Related symptoms:

  • Hyperkeratosis
  • Abnormality of the nervous system
  • Hypopigmentation of the skin
  • Abnormal bleeding
  • Epidermal acanthosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO EXOPHILIN 5 DEFICIENCY

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

Other less relevant matches:

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

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

Olmsted syndrome is a rare keratinization disorder characterized by the combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular keratosis, and constriction of the digits (summary by Yaghoobi et al., 2007).An autosomal dominant form of Olmsted syndrome (OMIM ) is caused by mutation in the TRPV3 gene (OMIM ) on chromosome 17p13.

PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED Is also known as olmsx|olmsted syndrome, x-linked

Related symptoms:

  • Flexion contracture
  • Alopecia
  • Hyperkeratosis
  • Erythema
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED

Low match BASAN SYNDROME

Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by Limova et al., 1993).

BASAN SYNDROME Is also known as ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease|adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities

Related symptoms:

  • Flexion contracture
  • Syndactyly
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BASAN SYNDROME

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

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

Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).

Related symptoms:

  • Seizures
  • Microcephaly
  • Scoliosis
  • Cataract
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEVUS COMEDONICUS SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Epidermal acanthosis

Symptoms // Phenotype % cases
Hyperkeratosis Very Common - Between 80% and 100% cases
Palmoplantar keratoderma Common - Between 50% and 80% cases
Alopecia Common - Between 50% and 80% cases
Erythema Common - Between 50% and 80% cases
Nail dystrophy Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Scarring

Uncommon Symptoms - Between 30% and 50% cases

Subungual hyperkeratosis

Common Symptoms - More than 50% cases

Ichthyosis

Uncommon Symptoms - Between 30% and 50% cases

Congenital ichthyosiform erythroderma Ectropion Eclabion Congenital nonbullous ichthyosiform erythroderma Anhidrosis Absent eyebrow Erythroderma Parakeratosis Hyperhidrosis Orthokeratosis Hypergranulosis Hypohidrosis Palmoplantar hyperkeratosis

Rare Symptoms - Less than 30% cases

Papule Nevus Visual loss Hypotrichosis Dry skin Everted lower lip vermilion Limitation of joint mobility Failure to thrive Amniotic constriction ring Hypernatremic dehydration Cutaneous syndactyly of toes Eosinophilia Acanthocytosis Acute kidney injury Dehydration Sepsis Renal insufficiency Adermatoglyphia Nail dysplasia Abnormal vertebral morphology Lack of skin elasticity Abnormality of the hair Epidermal nevus Nevus flammeus Pustule Hamartoma Acne Preaxial polydactyly Spina bifida occulta Spina bifida Skin vesicle Desquamation of skin soon after birth Abnormality of the foot Toe syndactyly Finger syndactyly Cataract Scoliosis Microcephaly Seizures Cicatricial lagophthalmos Aplasia cutis congenita Tapered finger Hypermelanotic macule Dilatation Facial erythema Lichenification Prematurely aged appearance Melanocytic nevus Pruritus Generalized ichthyosis Clubbing Fragile skin Oral leukoplakia Atrophic scars Abnormal bleeding Hypopigmentation of the skin Abnormality of the nervous system Maceration Orthokeratotic hyperkeratosis Palmoplantar hyperhidrosis Blepharitis Corneal neovascularization Milia Abnormal blistering of the skin Epiphora Overfolded helix Cutaneous syndactyly Abnormal dermatoglyphics Thickened skin Thin skin Interphalangeal joint contracture of finger Ectodermal dysplasia Alopecia totalis Single transverse palmar crease Skin rash Camptodactyly Clinodactyly Syndactyly Posterior blepharitis Agenesis of premolar Alopecia universalis Comedo


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