• A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
• A genetic, pathological and virological study of congenital hypotrichosis and incisor anodontia in cattle
• A hairy paradox: congenital triangular alopecia with a central hair tuft
• A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response
• Acute soft Tissue Infection with impending Loss of Finger in amniotic Band Syndrome of a 22-years-old Patient with palmoplantar Keratoderma congenital Alopecia Syndrome Type II
• Adult presentation of X-linked Conradi-Hünermann-Happle syndrome
• Alopecia, deformed ear and mental retardation associated with terminal 21q deletion
• An insight into the genesis of hypohidrotic ectodermal dysplasia in a case report
• Anterior, frontal congenital triangular alopecia, redundancy in therapy without improvement
• Aplasia cutis congenita with dermal melanocytosis
• ATP6AP1-CDG: Follow-up and female phenotype
• Atrichia congenita with papular lesions
• Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?
• Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
• Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia
• Canine noninflammatory alopecia: An approach to its classification and a diagnostic aid
• Case for diagnosis. Alopecia areata and congenital triangular alopecia
• CHILD syndrome
• CHILD syndrome in a mother and daughter
• Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome
• Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2
• Concomitance of Goldenhar Syndrome with Congenital Alopecia Areata
• Concordant congenital alopecia, achromotrichia and transverse palmar line in dizygotic triplets (two monozygotic males and one female)
• Congenital alopecia
• CONGENITAL ALOPECIA AREATA IN A FATHER INHERITED IN HIS SON
• Congenital alopecia in two brothers
• Congenital alopecia of eyebrow
• Congenital alopecia with papular lesions
• Congenital alopecias of the vortex
• Congenital atrichia with nail dystrophy, abnormal facies, and retarded psychomotor development in two siblings: a new autosomal recessive syndrome?
• CONGENITAL FAMILIAL ALOPECIA
• Congenital symmetrical circumscribed patterned non-scarring alopecia of eyebrows: a variant of congenital triangular alopecia or an anatomical variation?
• Congenital triangular alopecia
• Congenital Triangular Alopecia
• Congenital triangular alopecia: Is it always confined to fronto-temporal region?
• Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis
• Cutaneous mastocytosis associated with congenital alopecia
• Cutaneous signs and symptoms of X-linked chondrodysplasia punctata in man and mouse
• Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
• Dermatologic findings of focal dermal hypoplasia (Goltz syndrome)
• Differential diagnosis of certain forms of congenital circumscribed alopecia
• Directed expression of a chimeric type II keratin partially rescues keratin 5-null mice
• Electroencephalographic study of two cases of congenital diffuse alopecia developing by successive fibrile attacks
• Familial congenital alopecia, epilepsy, mental retardation with unusual electroencephalograms
• Focal Dermal Hypoplasia with Osteopathia Striata
• FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches
• Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome
• Genetics of Inherited Ichthyoses and Related Diseases
• Guess what! X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle Syndrome)
• Hirschsprung's disease associated with alopecia universalis congenita: a case report
• Ichthyosis follicularis with alopecia and photophobia in a girl with cataract: histological and electron microscopy findings
• Ichthyosis Follicularis with Alopecia and Photophobia Syndrome with Coexisting Palmoplantar Keratoderma Treated with Acitretin
• Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients
• Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man
• Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and a pathological insight into pilosebaceous anomaly
• Ichthyosis follicularis: a case report and review of the literature
• IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia
• IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia
• IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response
• Incidence of congenital triangular alopecia
• Inherited ichthyosis: Syndromic forms
• Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome
• Keratosis follicularis spinulosa decalvans-like cicatricial alopecia in a patient with cardiofaciocutaneous syndrome
• Kyoto rhino rats derived by ENU mutagenesis undergo congenital hair loss and exhibit focal glomerulosclerosis
• Lichenoid Dermatitis in an Adult with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome
• Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia)
• Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis
• NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: a new disease association
• ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE)
• Oral-facial-digital syndrome type I. A case report
• Photoletter to the editor: A new variant of ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome with coexisting psoriasiform lesions and palmoplantar keratoderma. IFAP-PPK syndrome?
• Progeria? with erythema of hands and feet, partial alopecia, congenital coloboma and osteoporosis
• Rapid response of topical minoxidil in congenital triangular alopecia
• Rare Presentation of Alopecia Universalis Congenita and Twenty-nail Dystrophy in Siblings
• Regrowth of hair in congenital triangular alopecia induced by sublingual minoxidil
• Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations
• Suspected case of leprosy in a subject with congenital alopecia
• Topical minoxidil treatment for congenital alopecia in hypohidrotic ectodermal dysplasia
• Unilateral focal dermal hypoplasia
• Use of dermoscopy in the diagnosis of temporal triangular alopecia
• Woolly hair nevus: neonatal alopecia can be an initial manifestation
• X-chromosome inactivation: role in skin disease expression
• X-linked dominant chondrodysplasia punctata (author's transl)
• X-linked dominant chondrodysplasia punctata (Happle syndrome) with uncommon symmetrical shortening of the tubular bones
• X-linked dominant chondrodysplasia punctata: an osteocutaneous syndrome
• X-linked dominant chondrodysplasia punctata. Review of literature and report of a case
• X-linked dominant Conradi-Hünermann syndrome presenting as congenital erythroderma
• X-Linked Hypohidrotic Ectodermal Dysplasia-General Features and Dental Abnormalities in Affected Dogs Compared With Human Dental Abnormalities
• X-linked recessive inheritance in a family with isolated congenital alopecia