Abnormality of the skeletal system, and Hyperhidrosis

Diseases related with Abnormality of the skeletal system and Hyperhidrosis

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


Top matches:

Low match PEELING SKIN SYNDROME 2; PSS2


Peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In an acral form of the disorder (PSS2), the dorsa of the hands and feet are predominantly affected, and ultrastructural analysis shows separation at the junction between the granular cells and the stratum corneum in the outer epidermis (summary by Cassidy et al., 2005).For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (OMIM ).

PEELING SKIN SYNDROME 2; PSS2 Is also known as acral peeling skin syndrome|peeling skin syndrome, acral type|apss

Related symptoms:

  • Hyperhidrosis
  • Erythema
  • Scarring
  • Pruritus
  • Abnormal blistering of the skin


SOURCES: OMIM MENDELIAN

More info about PEELING SKIN SYNDROME 2; PSS2

Low match POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6


Related symptoms:

  • Abnormal facial shape
  • Hyperhidrosis
  • Postaxial hand polydactyly
  • Broad phalanges of the 5th finger


SOURCES: OMIM MENDELIAN

More info about POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6

Low match PARAGANGLIOMAS 5; PGL5


Related symptoms:

  • Neoplasm
  • Hypertension
  • Hyperhidrosis
  • Vertigo
  • Tachycardia


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 5; PGL5

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match FAMILIAL PROGRESSIVE HYPER- AND HYPOPIGMENTATION


Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.

FAMILIAL PROGRESSIVE HYPER- AND HYPOPIGMENTATION Is also known as fph|fphh

Related symptoms:

  • Hyperhidrosis
  • Hypopigmentation of the skin
  • Hyperpigmentation of the skin
  • Progressive hyperpigmentation


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL PROGRESSIVE HYPER- AND HYPOPIGMENTATION

Low match HYPOTRICHOSIS 3; HYPT3


Hypotrichosis simplex can affect all body hair (generalized; see {605389}) or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from patients with early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by Betz et al., 2000).For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (OMIM ).

HYPOTRICHOSIS 3; HYPT3 Is also known as hypotrichosis simplex of the scalp 2|htss2

Related symptoms:

  • Hyperhidrosis
  • Sparse hair
  • Hypotrichosis
  • Sparse scalp hair
  • Hypotrichosis of the scalp


SOURCES: OMIM MENDELIAN

More info about HYPOTRICHOSIS 3; HYPT3

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 HYPOTRICHOSIS SIMPLEX


Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.

HYPOTRICHOSIS SIMPLEX Is also known as hhs|hereditary hypotrichosis simplex|hts|hypotrichosis simplex, generalized, hereditary

Related symptoms:

  • Alopecia
  • Hyperhidrosis
  • Sparse hair
  • Hypotrichosis
  • Sparse and thin eyebrow


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTRICHOSIS SIMPLEX

Low match UNCOMBABLE HAIR SYNDROME 2; UHS2


Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by U. Basmanav et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 (OMIM ).

Related symptoms:

  • Cataract
  • Alopecia
  • Hyperhidrosis
  • Hypotrichosis
  • Juvenile cataract


SOURCES: OMIM MENDELIAN

More info about UNCOMBABLE HAIR SYNDROME 2; UHS2

Low match HYPOTRICHOSIS 12; HYPT12


Related symptoms:

  • Intellectual disability
  • Alopecia
  • Hyperhidrosis
  • Abnormality of the nervous system
  • Hypotrichosis


SOURCES: OMIM MENDELIAN

More info about HYPOTRICHOSIS 12; HYPT12

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 Hyperhidrosis

Symptoms // Phenotype % cases
Hypotrichosis Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
Pruritus Rare - less than 30% cases
Epidermal acanthosis Rare - less than 30% cases
Hypotrichosis of the scalp Rare - less than 30% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Sparse hair Juvenile cataract Sparse eyebrow Sparse body hair Sparse axillary hair Sparse pubic hair Skin vesicle Cataract Pili canaliculi Thickened skin Uncombable hair Sparse eyelashes Abnormality of the nervous system Aplasia/Hypoplasia of the eyebrow Dry hair Slow-growing hair Sparse or absent eyelashes Pain Hyperkeratosis Palmoplantar keratoderma Intellectual disability Hypergranulosis Sparse and thin eyebrow Vertigo Scarring Abnormal blistering of the skin Scaling skin Abnormal facial shape Postaxial hand polydactyly Broad phalanges of the 5th finger Neoplasm Hypertension Tachycardia Acantholysis Pheochromocytoma Paraganglioma Hypopigmentation of the skin Hyperpigmentation of the skin Progressive hyperpigmentation Sparse scalp hair Papule Erythema Oral leukoplakia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Microtia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more