Hallermann-Streiff syndrome is a very rare congenital disorder, which is primarily characterized by the head and face abnormalities. Approximately 180 cases have been reported worldwide, including 8 cases in Korea since it was first described by Hallermann in 1893. Patients exhibit a bird-like face, hypotrichosis, atrophy of skin, dental abnormalities, proportionate nanism, and various ophthalmic disorders, including congenital cataracts and bilateral micropthalmia. As a result of many life-threatening complications, such as respiratory and cardiac difficulties, many patients die during infancy. We report here two cases of HSS diagnosed immediately after birth with literature reviews. They showed two additional characteristics, including chubby cheeks and antenatal ultrasonographic findings, which have not been mentioned in previous reports.
Atrophy ; Cataract ; Cheek ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Dwarfism ; Hallermann's Syndrome ; Head ; Humans ; Hypotrichosis ; Korea ; Microphthalmos ; Parturition ; Skin

OBJECTIVETo analyze clinical symptoms and disease-causing mutations of corneodesmosin (CDSN) gene in a Chinese family affected with hypotrichosis simplex of the scalp and to establish a method for prenatal diagnosis.

METHODSFamily survey and clinical examinations were carried out to determine the inheritance pattern. Three patients and 7 unaffected relatives from the family, in addition with 100 unrelated healthy controls were recruited. Genomic DNA from peripheral blood leukocytes was extracted. Five pairs of primers were designed based on the CDSN gene sequence. Exons and flanking regions of the CDSN gene were amplified using polymerase chain reaction (PCR). Potential mutations were analyzed through direct sequencing and comparison by BLAST.

RESULTSThe type of alopecia of the family was diagnosed as hypotrichosis simplex of the scalp with an autosomal dominant inheritance pattern. A nonsense mutation (C717G) in cDNA sequence of the CDSN gene was identified in all three patients of the family, which resulted in a premature stop codon (Y239X). The same mutation was not found among healthy members of the family and 100 healthy controls.

CONCLUSIONA Chinese family was diagnosed with hypotrichosis simplex of the scalp, which was caused by a novel nonsense mutation (Y239X) in the CDSN gene.

Alopecia ; genetics ; China ; Codon, Nonsense ; Female ; Glycoproteins ; genetics ; Humans ; Hypotrichosis ; genetics ; Male ; Middle Aged ; Pedigree ; Scalp

Hypohidrotic ectodermal dysplasia (HED) is a syndrome characterized by hypodontia, hypotrichosis, and partial or total ecrine sweat gland deficiency. The most prevalent form of HED is inherited as an X linked pattern. Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is an X-linked recessive disease, which leads to hemolytic anemia and jaundice. It is expressed in males, while heterozygous females are usually clinically normal. A 12-year-old boy with the complaints of hair and eyebrow disturbances, teeth disfigurement, decreased sweating, and xerosis presented to the outpatient clinic. Dermatological examination revealed sparse hair and eyebrows, conical-shaped teeth, xerosis, syndactylia, transverse grooves, and discoloration of nails. Laboratory findings indicated anemia. His 3-year-old sister also had sparse hair and eyebrows, xerosis, and syndactylia. We learned that the patient had a previous history of neonatal jaundice and a diagnosis of G-6-PD deficiency. Although it has been shown that loci of ectodermal dysplasia and G-6-PD deficiency genes are near to one another, we did not find any case study reporting on occurrence of these two genetic diseases together. With the aspect of this rare and interesting case, the relationship between HED and G-6-PD deficiency was defined.
Ambulatory Care Facilities ; Anemia ; Anemia, Hemolytic ; Anodontia ; Child ; Ectoderm ; Ectodermal Dysplasia ; Eyebrows ; Female ; Glucose-6-Phosphate ; Glucosephosphate Dehydrogenase ; Glucosephosphate Dehydrogenase Deficiency ; Hair ; Humans ; Hypotrichosis ; Infant, Newborn ; Jaundice ; Jaundice, Neonatal ; Male ; Nails ; Preschool Child ; Siblings ; Sweat ; Sweat Glands ; Sweating ; Syndactyly ; Tooth

Hypotrichosis simplex is a descriptive term of hair loss without other ectodermal or systemic abnormalities. Hypotrichosis simplex with non-familial and generalized types has been seldom reported. A 30-year-old man visited our clinic complaining of scalp hair loss since birth. There was no hair on the arms, axillae and legs. He had relatively scanty eyebrows and pubic hairs. None of his family members had known health problems or any hereditary disease. Hair shaft examination based on electron microscopy did not reveal any structural abnormalities. Microscopic examination of a scalp biopsy specimen showed a reduced number of hair follicles with vellus hairs replacing terminal hairs. Herein we report a rare and interesting case of non-familial generalized hypotrichosis simplex.
Adult ; Arm ; Axilla ; Biopsy ; Ectoderm ; Eyebrows ; Genetic Diseases, Inborn ; Hair ; Hair Follicle ; Humans ; Hypotrichosis ; Leg ; Methylmethacrylates ; Microscopy, Electron ; Parturition ; Polystyrenes ; Scalp

Hallermann-Streiff syndrome is a rare disease. Approximately 150 cases have been reported, including 6 cases in Korea. The authors experienced a case of Hallermann-Streiff syndrome in a 6-year-old female with aphakia. The syndrome is characterized by a bird-like face, dental abnormalities, hypotrichosis, atrophy of the skin, bilateral microphthalmia, and proportionate dwarfism. A brief review of the literature was conducted.
Aphakia ; Atrophy ; Child ; Dwarfism ; Female ; Hallermann's Syndrome ; Humans ; Hypotrichosis ; Korea ; Microphthalmos ; Rare Diseases ; Skin

Acrokeratosis paraneoplastica, or Bazex syndrome, is one of the paraneoplastic syndromes. The characteristic skin lesions include palmoplantar keratoderma, psoriasiform skin lesions, hyperpigmentation, and nail dystrophy. The most common associated neoplasms are squamous cell carcinoma of the upper respiratory tract and other kinds of tumors with cervical lymph node metastasis. A 63-year-old woman presented with an 11 month history of hyperkeratotic lesions on the palms and soles. Ten months before she had been diagnosed with adenocarcinoma of the colon and undergone a left hemicolectomy. We report a case of acrokeratosis paraneoplastica associated with colon cancer which persisted after removal of the primary cancer, but resolved with topical tretinoin treatment.
Adenocarcinoma ; Carcinoma, Basal Cell ; Carcinoma, Squamous Cell ; Colon ; Colonic Neoplasms ; Female ; Histiocytoma, Benign Fibrous ; Humans ; Hyperpigmentation ; Hypotrichosis ; Keratoderma, Palmoplantar ; Lymph Nodes ; Middle Aged ; Nails ; Neoplasm Metastasis ; Paraneoplastic Syndromes ; Respiratory System ; Skin ; Skin Neoplasms ; Tretinoin

Basaloid follicular hamartoma is a benign adnexal tumor consisting of basaloid cells with follicular differentiation. It can present as a solitary lesion, multiple lesions, or an autosomal dominant inherited syndrome (basaloid follicular hamartoma syndrome). Basaloid follicular hamartoma syndrome is a rare adnexal tumor genodermatosis, which is characterized by autosomal dominant inheritance, histologically proven basaloid follicular hamartomas and associated findings including hypotrichosis, palmar/plantar pitting and hypohidrosis, etc. Herein, we report a case of 4-year-old girl with familial generalized basaloid follicular hamartoma syndrome.
Child, Preschool ; Female ; Hamartoma* ; Humans ; Hypohidrosis ; Hypotrichosis ; Wills

PURPOSE: We report a case of Hallermann-Streiff syndrome with 360 degrees posterior synechiae, small pupils and aphakia. METHODS: A five-year-old female presented with decreasing visual acuity of both eyes. Visual acuity was not checkable due to mental retardation. Microcornea, microphthalmia, nystagmus and esotropia were found, and a fundus examination was not available due to 360 degrees posterior synechiae and small pupils. She had developmental delays, bird-like face and hypotrichosis. A pediatric physician was consulted who diagnosed her with Hallermann-Streiff syndrome. Refraction and fundus examinations were impossible due to her small pupils, so synechiolysis was done. RESULTS: After synechiolysis and pupil dilatation in right eye with iris retractors, continuous curvilinear capsulorhexis (CCC) was attempted. However, the anterior capsule was unusually fragile and fibrtic. Therefore, the CCC failed. In addition, the crystalline lens and the zonule were not found. The posterior capsule was fragile similar to the anterior capsule. Complete posterior CCC (PCCC) was impossible. We could not find any formed vitreous in the vitreous cavity during anterior vitrectomy. We diagnosed the condition as aphakia with only two layers of membranes. Two weeks later, synechiolysis in the left eye was done. The left eye was also diagnosed with aphakia, and only synechiolysis was performed. CONCLUSIONS: The possibility of aphakia must be always considered in cases of Hallermann-Streiff syndrome.
Aphakia ; Capsulorhexis ; Dilatation ; Esotropia ; Female ; Hallermann's Syndrome* ; Humans ; Hypotrichosis ; Intellectual Disability ; Iris ; Lens, Crystalline ; Membranes ; Microphthalmos ; Miosis ; Pupil ; Visual Acuity ; Vitrectomy

PURPOSE: We report a case of Hallermann-Streiff syndrome with 360 degrees posterior synechiae, small pupils and aphakia. METHODS: A five-year-old female presented with decreasing visual acuity of both eyes. Visual acuity was not checkable due to mental retardation. Microcornea, microphthalmia, nystagmus and esotropia were found, and a fundus examination was not available due to 360 degrees posterior synechiae and small pupils. She had developmental delays, bird-like face and hypotrichosis. A pediatric physician was consulted who diagnosed her with Hallermann-Streiff syndrome. Refraction and fundus examinations were impossible due to her small pupils, so synechiolysis was done. RESULTS: After synechiolysis and pupil dilatation in right eye with iris retractors, continuous curvilinear capsulorhexis (CCC) was attempted. However, the anterior capsule was unusually fragile and fibrtic. Therefore, the CCC failed. In addition, the crystalline lens and the zonule were not found. The posterior capsule was fragile similar to the anterior capsule. Complete posterior CCC (PCCC) was impossible. We could not find any formed vitreous in the vitreous cavity during anterior vitrectomy. We diagnosed the condition as aphakia with only two layers of membranes. Two weeks later, synechiolysis in the left eye was done. The left eye was also diagnosed with aphakia, and only synechiolysis was performed. CONCLUSIONS: The possibility of aphakia must be always considered in cases of Hallermann-Streiff syndrome.
Aphakia ; Capsulorhexis ; Dilatation ; Esotropia ; Female ; Hallermann's Syndrome* ; Humans ; Hypotrichosis ; Intellectual Disability ; Iris ; Lens, Crystalline ; Membranes ; Microphthalmos ; Miosis ; Pupil ; Visual Acuity ; Vitrectomy

Anhidrotic ectodermal dysplasia is a rare genetic disorder characterized by absence or diminished numbers of structures derived from the ectoderm, and it is reported to be inherited as an x-linked recessive trait. It is recognized clinically by anhidrosis, hypotrichosis, anodontia or reduced numbers of teeth with deformed shape and characteristic facial features. In addition, otolaryngological manifestations include atrophic rhinitis, sensorineural hearing loss, and conductive hearing loss and satyr ear, among others. Early diagnosis of anhidrotic ectodermal dysplasia can prevent fatal hyperpyrexia and appropriate genetic counseling can be followed to make a reasonable future plans for the pediatric patient. A 2-month-old infant was referred with symptoms of intermittent nasal obstruction and crust formation in both nasal cavities. The nasal endoscope demonstrated atrophic changes of nasal mucosa and radiologic study showed an unerupted conical shaped tooth. The diagnosis of anhidrotic ectodermal dysplasia was confirmed with the finger impression test that revealed deficiency of sweat pores. We report a case of anhidrotic ectodermal dysplasia with a review of the literature.
Anodontia ; Diagnosis ; Ear ; Early Diagnosis ; Ectoderm ; Ectodermal Dysplasia* ; Endoscopes ; Fingers ; Genetic Counseling ; Hearing Loss, Conductive ; Hearing Loss, Sensorineural ; Humans ; Hypohidrosis ; Hypotrichosis ; Infant ; Nasal Cavity ; Nasal Mucosa ; Nasal Obstruction ; Rhinitis, Atrophic* ; Sweat ; Tooth