Categories: Dermatological disorders



Inclusion Criteria Generalised (not patchy) scalp hypotrichosis from 6 months of age or earlier with no improvement, AND Patient older than three years Exclusion Criteria Patchy hypotrichosis Patchy or episodic regrowth Syndromic congenital hypotrichosis including ectodermal dysplasias, alopecia with vitamin D resistant rickets, hypotrichosis with dysmorphic facies, hypotrichosis with spondyloepimetaphyseal […]

Non-syndromic hypotrichosis


Inclusion Criteria Generalised peeling skin with or without atopy, OR Acral peeling skin (TGM5 mutations excluded), OR Peeling skin in association with other features, OR AND Diagnosis of peeling skin syndrome confirmed by consultant dermatogist Exclusion Criteria Peeling skin cases that have not had the genetic testing below Prior genetic […]

Peeling skin syndrome



Inclusion Criteria: Cicatricial alopecia diagnosed by a consultant dermatologist Family history of cicatricial alopecia in at least one first or second degree relative Exclusion Criteria: Prior genetic testing guidance Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not […]

Familial cicatricial alopecia


 Inclusion criteria: Neonates, infants, children and adults with a history of generalised red, dry, peeling skin at birth with a mode of inheritance consistent with autosomal recessive transmission Diagnosis confirmed by consultant dermatologist   Exclusion criteria: Ichthyosis vulgaris STS-related ichthyosis Syndromic ichthyosis Keratinopathic ichthyosis Acquired ichthyosis Prior genetic testing guidance Results […]

Autosomal recessive congenital ichthyosis


 Inclusion criteria: All of the following: Abnormal skin pigmentation (café au lait pigmentation, or hypopigmentation, or both) Affected individual has a family history of abnormal skin pigmentation in a first degree relative or is the offspring of a consanguineous relationship Neurological phenotype in at least two of the family members […]

Undiagnosed neurocutaneous disorders



 Inclusion criteria: Patients with inherited skin fragility and a clinical diagnosis of EB of unknown cause Diagnosis confirmed by a consultant dermatologist   Exclusion criteria: Non-EB genetic causes including porphyria or photosensitivity syndromes Acquired causes including EB acquisita and bullous drug reactions Prior genetic testing guidance Results should have been reviewed […]

Epidermolysis bullosa


 Inclusion criteria: Presence of primary, sterile, macroscopically visible epidermal pustules on non-acral skin More than one episode of acute postulation Diagnosis confirmed by consultant dermatologist   Exclusion criteria: Cases where pustulation is restricted to psoriatic plaques Prior genetic testing guidance Results should have been reviewed for all genetic tests undertaken, […]

Generalised pustular psoriasis


 Inclusion criteria: Ectodermal dysplasia e. abnormality of at least two of the following: nails teeth hair sweating With or without additional phenotypic features g. clefting, limb defects, hearing loss.  Exclusion criteria: Mutation in known ectodermal dysplasia gene Prior genetic testing guidance Results should have been reviewed for all genetic tests […]

Ectodermal dysplasia without a known gene mutation



 Inclusion criteria: Diagnosis of one of the following confirmed by consultant dermatologist: Diffuse palmoplantar keratoderma Focal keratoderma with or without nail involvement Pachyonychia congenita phenotype (focal keratoderma with pain and dystrophic nails, oral leukokeratosis and or follicular hyperkeratoses/cysts). Punctate keratoderma Striate keratoderma alone Striate keratoderma with woolly hair Keratoderma with […]

Palmoplantar keratoderma and erythrokeratodermas