Abnormality of the skeletal system, and Epidermal acanthosis

Diseases related with Abnormality of the skeletal system and Epidermal acanthosis

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Epidermal acanthosis that can help you solving undiagnosed cases.


Top matches:

Low match KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2


PPKS2 is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor. Hyperkeratosis of the soles primarily involves pressure points, and diffuse background palmoplantar thickening may also be present. (Armstrong et al., 1999; Whittock et al., 1999).For a discussion of genetic heterogeneity of the striate form of palmoplantar keratoderma, see PPKS1 (OMIM ).

KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2 Is also known as striate palmoplantar keratoderma ii|sppk2|keratoderma, palmoplantar, striate form ii|kpps2

Related symptoms:

  • Hyperkeratosis
  • Palmoplantar keratoderma
  • Epidermal acanthosis
  • Scaling skin
  • Skin vesicle


SOURCES: OMIM MESH MENDELIAN

More info about KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2

Low match EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO EXOPHILIN 5 DEFICIENCY


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

Low match ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4; EKVP4


Erythrokeratodermia variabilis et progressiva-4 is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet (summary by Boyden et al., 2017).For a discussion of genetic heterogeneity of EKVP, see EKVP1 (OMIM ).

Related symptoms:

  • Pneumonia
  • Erythema
  • Epidermal acanthosis
  • Thickened skin
  • Palmoplantar hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4; EKVP4

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Other less relevant matches:

Low match NEVUS COMEDONICUS SYNDROME


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

Low match ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3


Erythrokeratodermia variabilis et progressiva is a rare skin disease. Patients with EKVP3 have normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema (summary by Boyden et al., 2015).For a discussion of genetic heterogeneity of EKVP, see EKVP1 (OMIM ).

Related symptoms:

  • Hyperkeratosis
  • Erythema
  • Palmoplantar keratoderma
  • Epidermal acanthosis
  • Hypergranulosis


SOURCES: OMIM MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3

Low match WHITE SPONGE NEVUS 2; WSN2


Related symptoms:

  • Edema
  • Nevus
  • Epidermal acanthosis
  • Hyperparakeratosis


SOURCES: OMIM MENDELIAN

More info about WHITE SPONGE NEVUS 2; WSN2

Low match DOWLING-DEGOS DISEASE 4; DDD4


Related symptoms:

  • Hyperhidrosis
  • Papule
  • Pruritus
  • Epidermal acanthosis
  • Hypergranulosis


SOURCES: OMIM MENDELIAN

More info about DOWLING-DEGOS DISEASE 4; DDD4

Low match ACROKERATOSIS VERRUCIFORMIS OF HOPF


Acrokeratosis verruciformis of Hopf is a localized disorder of keratinization affecting the distal extremities. Onset occurs early in life (Dhitavat et al., 2003).

ACROKERATOSIS VERRUCIFORMIS OF HOPF Is also known as akv of hopf|hopf disease

Related symptoms:

  • Hyperkeratosis
  • Epidermal acanthosis
  • Ridged nail
  • Subungual hyperkeratosis
  • Acrokeratosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACROKERATOSIS VERRUCIFORMIS OF HOPF

Low match PEELING SKIN SYNDROME 5; PSS5


Peeling skin syndrome-5 (PSS5) is characterized by superficial peeling of the dorsal and palmar skin of the hands and feet; the skin of the forearms and legs may also be involved. Some patients exhibit diffuse yellowish hyperkeratotic palmoplantar plaques (Pigors et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (OMIM ).

Related symptoms:

  • Hyperkeratosis
  • Erythema
  • Ichthyosis
  • Epidermal acanthosis
  • Scaling skin


SOURCES: OMIM MENDELIAN

More info about PEELING SKIN SYNDROME 5; PSS5

Low match AUTOSOMAL DOMINANT FOCAL NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA WITH PLANTAR BLISTERING


A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.

Related symptoms:

  • Pain
  • Hyperhidrosis
  • Hyperkeratosis
  • Palmoplantar keratoderma
  • Epidermal acanthosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT FOCAL NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA WITH PLANTAR BLISTERING

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Epidermal acanthosis

Symptoms // Phenotype % cases
Hyperkeratosis Common - Between 50% and 80% cases
Erythema Uncommon - Between 30% and 50% cases
Scaling skin Uncommon - Between 30% and 50% cases
Palmoplantar keratoderma Uncommon - Between 30% and 50% cases
Hyperhidrosis Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Epidermal acanthosis. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Hypergranulosis Nevus Papule Thickened skin Ichthyosis Skin vesicle Hyperparakeratosis Pustule Nevus flammeus Epidermal nevus Comedo Abnormality of the nervous system Edema Pneumonia Acne Pruritus Acantholysis Ridged nail Subungual hyperkeratosis Acrokeratosis Psoriasiform dermatitis Pain Hamartoma Preaxial polydactyly Fragile skin Finger syndactyly Palmoplantar hyperkeratosis Seizures Microcephaly Scoliosis Cataract Alopecia Scarring Atrophic scars Spina bifida occulta Toe syndactyly Abnormality of the foot Abnormal bleeding Hypopigmentation of the skin Abnormal vertebral morphology Abnormality of the hair Spina bifida Oral leukoplakia



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