Abnormality of the skeletal system, and Nail dystrophy

Diseases related with Abnormality of the skeletal system and Nail dystrophy

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


Top matches:

Low match NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8


This form of isolated toenail dystrophy has been found to segregate as an autosomal dominant trait in families in which another member has the autosomal recessive skin disorder dystrophic epidermolysis bullosa (OMIM ) or transient bullous dermolysis of the newborn (OMIM ), the features of which include dystrophic nails. The nail changes in isolated toenail dystrophy are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge (summary by Sato-Matsumura et al., 2002). This form of toenail dystrophy is referred to here as nonsyndromic congenital nail disorder-8 (NDNC8).For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (OMIM ).

NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8 Is also known as toenail dystrophy, isolated

Related symptoms:

  • Nail dystrophy
  • Fragile skin


SOURCES: OMIM MESH MENDELIAN

More info about NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8

Low match EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS


EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS Is also known as epidermolysis bullosa dystrophica, bart type

Related symptoms:

  • Nail dystrophy
  • Nail dysplasia
  • Fragile skin
  • Congenital localized absence of skin


SOURCES: MESH OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND


Related symptoms:

  • Cardiomyopathy
  • Hyperkeratosis
  • Scarring
  • Muscular dystrophy
  • Papule


SOURCES: OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND

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Other less relevant matches:

Low match DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA, NAILS ONLY


Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails.

DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA, NAILS ONLY Is also known as nails-only ddeb

Related symptoms:

  • Nail dystrophy
  • Dystrophic toenail
  • Absent toenail


SOURCES: ORPHANET MENDELIAN

More info about DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA, NAILS ONLY

Low match AUTOSOMAL RECESSIVE NAIL DYSPLASIA


Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported.

AUTOSOMAL RECESSIVE NAIL DYSPLASIA Is also known as onychauxis, hyponychia, and onycholysis|claw-shaped nails

Related symptoms:

  • Nail dystrophy
  • Nail dysplasia
  • Onycholysis
  • Onychauxis
  • Onycholysis of fingernails


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE NAIL DYSPLASIA

Low match POROKERATOSIS 3, MULTIPLE TYPES; POROK3


Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.Mutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), porokeratosis of Mibelli, giant plaque of porokeratosis ptychotropica, hyperkeratotic porokeratosis, and linear porokeratosis.The preferred title of this entry was formerly 'Porokeratosis 3, Disseminated Superficial Actinic Type; POROK3.'Disseminated superficial actinic porokeratosis is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012).For a discussion of genetic heterogeneity of porokeratosis, see {175800}.

POROKERATOSIS 3, MULTIPLE TYPES; POROK3 Is also known as porokeratosis, disseminated superficial actinic, 1|dsap1

Related symptoms:

  • Nail dystrophy
  • Parakeratosis
  • Porokeratosis


SOURCES: OMIM MESH MENDELIAN

More info about POROKERATOSIS 3, MULTIPLE TYPES; POROK3

Low match ACRAL DYSTROPHIC EPIDERMOLYSIS BULLOSA


Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet.

Related symptoms:

  • Nail dystrophy
  • Milia
  • Atrophic scars


SOURCES: ORPHANET MENDELIAN

More info about ACRAL DYSTROPHIC EPIDERMOLYSIS BULLOSA

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA


Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.

JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA Is also known as inverse jeb|jeb-i|ebj-i

Related symptoms:

  • Nail dystrophy
  • Abnormal blistering of the skin
  • Milia
  • Atrophic scars


SOURCES: ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA

Low match ALYMPHOID CYSTIC THYMIC DYSGENESIS


Alymphoid cystic thymic dysgenesis is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.

ALYMPHOID CYSTIC THYMIC DYSGENESIS Is also known as winged helix deficiency|severe t-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome|foxn1 deficiency

Related symptoms:

  • Immunodeficiency
  • Alopecia
  • Nail dystrophy
  • Hypotrichosis
  • Ridged nail


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ALYMPHOID CYSTIC THYMIC DYSGENESIS

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Nail dystrophy

Symptoms // Phenotype % cases
Abnormal blistering of the skin Rare - less than 30% cases
Milia Rare - less than 30% cases
Atrophic scars Rare - less than 30% cases
Fragile skin Rare - less than 30% cases
Nail dysplasia Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Nail pits Decrease in T cell count Ridged nail Parakeratosis Alopecia Severe T-cell immunodeficiency Immunodeficiency Congenital alopecia totalis Psoriasiform dermatitis Porokeratosis Hypotrichosis Onychauxis Onycholysis of fingernails Onycholysis Absent toenail Dystrophic toenail Plantar hyperkeratosis Skin vesicle Pruritus Papule Muscular dystrophy Scarring Hyperkeratosis Cardiomyopathy Congenital localized absence of skin Decreased proportion circulating T-helper cells



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