Abnormality of the skeletal system, and Thin skin

Diseases related with Abnormality of the skeletal system and Thin skin

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


Top matches:

Low match HEPATOERYTHROPOIETIC PORPHYRIA


Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.

HEPATOERYTHROPOIETIC PORPHYRIA Is also known as hep

Related symptoms:

  • Hemolytic anemia
  • Cutaneous photosensitivity
  • Thin skin


SOURCES: ORPHANET MENDELIAN

More info about HEPATOERYTHROPOIETIC PORPHYRIA

Low match SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS


Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.

SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS Is also known as ichthyosis bullosa of siemens|sei

Related symptoms:

  • Edema
  • Erythema
  • Ichthyosis
  • Palmoplantar keratoderma
  • Abnormal blistering of the skin


SOURCES: ORPHANET MENDELIAN

More info about SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS

Low match DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA


Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.

DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA Is also known as dystrophic epidermolysis bullosa pruriginosa|deb, pruriginosa|deb-pr|pruriginous dystrophic epidermolysis bullosa

Related symptoms:

  • Scarring
  • Papule
  • Pruritus
  • Nail dystrophy
  • Nail dysplasia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA

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Other less relevant matches:

Low match EXFOLIATIVE ICHTHYOSIS


Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.

EXFOLIATIVE ICHTHYOSIS Is also known as ichthyosis, bullous type|ichthyosis exfoliativa|autosomal recessive exfoliative ichthyosis

Related symptoms:

  • Edema
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Ichthyosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about EXFOLIATIVE ICHTHYOSIS

Low match EHLERS-DANLOS SYNDROME TYPE 7A


EHLERS-DANLOS SYNDROME TYPE 7A Is also known as eds viia

Related symptoms:

  • Short stature
  • Muscle weakness
  • Joint hyperflexibility
  • Thin skin
  • Hyperextensible skin


SOURCES: ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7A

Low match ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A Is also known as hed|ectodermal dysplasia, hypohidrotic, autosomal dominant

Related symptoms:

  • Hyperhidrosis
  • Sparse hair
  • Hypotrichosis
  • Dry skin
  • Thick vermilion border


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A

Low match ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME


Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.

ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME Is also known as baird syndrome|absence of dermatoglyphics-congenital milia syndrome

Related symptoms:

  • Camptodactyly of finger
  • Skin rash
  • Abnormal blistering of the skin
  • Thin skin
  • Thickened skin


SOURCES: ORPHANET MENDELIAN

More info about ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME

Low match AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA


AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as autosomal dominant anhidrotic ectodermal dysplasia|ad-hed

Related symptoms:

  • Abnormality of the dentition
  • Prominent forehead
  • Hypotrichosis
  • Abnormality of skin pigmentation
  • Thick vermilion border


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA

Low match SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY


Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.

SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY Is also known as autosomal recessive thrombophilia due to congenital protein s deficiency

Related symptoms:

  • Retinopathy
  • Abnormality of skin pigmentation
  • Thin skin
  • Skin ulcer
  • Purpura


SOURCES: ORPHANET MENDELIAN

More info about SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2


PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 Is also known as cushing syndrome, adrenal, due to ppnad2|pigmented micronodular adrenocortical disease, primary, 2

Related symptoms:

  • Hypertension
  • Kyphosis
  • Depressivity
  • Osteoporosis
  • Osteopenia


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Thin skin

Symptoms // Phenotype % cases
Abnormal blistering of the skin Uncommon - Between 30% and 50% cases
Hypohidrosis Uncommon - Between 30% and 50% cases
Hypodontia Rare - less than 30% cases
Hyperhidrosis Rare - less than 30% cases
Atrophic scars Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Milia Hypotrichosis Nail dysplasia Thick vermilion border Abnormality of skin pigmentation Acantholysis Palmoplantar keratoderma Ichthyosis Erythema Edema Venous insufficiency Aplasia/Hypoplasia of the skin Arterial thrombosis Abnormality of the cerebral vasculature Deep venous thrombosis Gangrene Pulmonary embolism Hemolytic anemia Purpura Skin ulcer Retinopathy Premature loss of primary teeth Malignant hyperthermia Thrombophlebitis Abnormality of dental morphology Abnormality of the fingernails Depressed nasal ridge Eczema Sparse body hair Osteoporosis Subcutaneous hemorrhage Agitation Primary hypercortisolism Pigmented micronodular adrenocortical disease Mood changes Decreased circulating ACTH level Adrenal hyperplasia Increased circulating cortisol level Striae distensae Truncal obesity Psychosis Hypertension Round face Bruising susceptibility Mental deterioration Anxiety Osteopenia Abnormality of the dentition Depressivity Kyphosis Prominent forehead Hypohidrotic ectodermal dysplasia Amniotic constriction ring Erythroderma Sparse hair Hyperextensible skin Joint hyperflexibility Muscle weakness Short stature Congenital bullous ichthyosiform erythroderma Lichenification Hyperkeratosis Delayed eruption of teeth Skin nodule Fragile skin Skin vesicle Dermal atrophy Nail dystrophy Pruritus Papule Scarring Dry skin Ectodermal dysplasia Abnormal dermatoglyphics Slow-growing hair Thickened skin Skin rash Camptodactyly of finger Short eyelashes Delayed eruption of primary teeth Cutaneous photosensitivity Anhidrotic ectodermal dysplasia Absent nipple Conical tooth Microdontia Heat intolerance Anodontia Agenesis of permanent teeth Anhidrosis Sparse eyebrow Sparse eyelashes Sparse and thin eyebrow Fine hair Paradoxical increased cortisol secretion on dexamethasone suppression test



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