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Treatment of diaper dermatitis: Review of the treatment options
P2306
P2308
Brachyonychia and brachydactyly as the presenting feature of Hadjue Cheney syndrome Tracy Thomas, MD, University of New Mexico, Albuquerque, NM, United States; Carol Clericuzio, MD, University of New Mexico, Albuquerque, NM, United States; Barrett Zlotoff, MD, University of New Mexico, Albuquerque, NM, United States
Congenital basaloid follicular hamartoma mimicking congenital linear morphea of the face Ronald Tee, MD, Mayo Clinic Scottsdale, Scottsdale, AZ, United States; David Carpentieri, MD, Phoenix Children’s Hospital, Phoenix, AZ, United States; Ronald Hansen, MD, Phoenix Children’s Hospital, Phoenix, AZ, United States; Xuan Nguyen, MD, Phoenix Children’s Hospital, Phoenix, AZ, United States
We are presenting a case of a 4-year-old female who presented with severe brachyonychia and bulbous, blunt, racquet-like fingertips with a constriction band at the beginning of the distal interphalangeal joint, and brachydactyly of all 10 upper extremity digits. This digital abnormality had been present since birth with some difficulties picking up small objects. The lower extremity digits were not affected. Further physical examination revealed a small stature (fifth percentile in height) and weight which was three standard deviations below the mean, a head circumference which was four standard deviations below the mean, micrognathia, inferiorly displaced cheeks, increased spacing between teeth, and thin enamel. Cognition was completely intact. Radiographs of the left hand revealed a complete absence of the second finger distal tuft, partial absence of the first, third, and fourth tufts, as well as fragmentation of the fifth tuft. Distal phalangeal epiphyses were noted to be present. HadjueCheney syndrome is a rare, autosomal dominant disorder. However, the genetic mutation and molecular defect are unkown. Physical findings include progressive acroosteolysis of the distal phalanges with associated digital abnormalities including brachyonychia in 84% of patients, craniofacial abnormalities, including micrognathia, mid-facial flattening, dental anomalies with predominantly thin enamel, short stature generally in the fifth percentile, cystic kidneys, often with hypertension, hirsutism in 16% of patients, and dry, coarse skin in 7% of patients. Generally, the acroosteolysis and the accompanying brachyonychia and brachydactyly develop and progress in adolescence and early adulthood. Our patient initially presented at age 4 with acroosteolysis, but had a history of digital anomalies including brachyonychia since birth.
Basaloid follicular hamartoma is a rare hamartoma of the hair follicles characterized by anastomosing strands and cords of basaloid or squamoid cells with intervening fibrous stroma. Clinically, it has a diverse presentation that can be sporadic or inherited and may vary from solitary to linear/unilateral to generalized forms with or without syndromic associations. The generalized forms, in particular, have been associated with alopecia, myasthenia gravis, systemic lupus erythematosus and cystic fibrosis. We report a case of a 2-month-old infant girl who presented with left eyelid ptosis, congenital glaucoma, craniofacial anomalies, and a distinct atrophic and sclerotic linear streak down the midline of her forehead extending to the left temple. Additional cutaneous findings included atrophic, waxy, skin-colored papules clustered into larger plaques involving the left medial canthus, upper eyelid, and cheek. The preauricular cheek and neck also exhibited confetti-like, lacy white soft macules coalescing into linear patches. Clinically, the lesions were strongly suggestive for congenital linear morphea. Biopsies, however, revealed small basaloid follicular structures in the papillary dermis surrounded by fibrotic stroma and mucin consistent with basaloid follicular hamartoma. This case represents the rare congenital unilateral linear variant of this hamartoma, and it highlights how this entity may be virtually indistinguishable in presentation from congenital linear morphea. Additionally, it also identifies new associations with basaloid follicular hamartomas and raises the question of its relationship to syndromes like CurryeJones syndrome (streaky morphea-like skin lesions, craniofacial anomalies, polysyndactyly, and defects of the gastrointestinal tract). Commercial support: None identified.
Commercial support: None identified.
P2309 Extensive structural anomalies and genetic anticipation in a patient with Goltz syndrome Jennifer A. Cafardi, MD, University of Alabama at Birmingham, Birmingham, AL, United States; Allison Swanson, MD, University of Alabama at Birmingham, Birmingham, AL, United States; Amy Theos, MD, University of Alabama at Birmingham, Birmingham, AL, United States A 1-day-old girl presented with asymmetric, linear, erythematous erosions distributed along Blaschko’s lines on the upper and lower extremities, as well as the occipital scalp. Other cutaneous findings included cribiform scarring on the central face, hypoplastic fingernails, protruding ears, and a preauricular tag on the right side. Craniofacial exam revealed extensive facial clefting extending to the right orbit with associated right anophthalmos and left nanophthalmos. Other structural anomalies included a small mandible, syndactyly of the left foot, widely spaced fingers, and arachnodactyly. Urogenital examination revealed a large hooded clitoris with the anus and vagina in close proximity. She also had a large omphalocele with visible intestines. An echocardiogram revealed a moderate ventricular septal defect, patent foramen ovale, and left to right shunting. A renal ultrasound showed grade II hydronephrosis on the right side. MRI of the head showed a small pituitary gland and a focal abnormality in the right temporal lobe representing hemorrhage. The patient’s prenatal history was remarkable for known intrauterine growth retardation and numerous structural anomalies visualized on ultrasound. She was born at 36 weeks gestation to a mother with known Goltz syndrome, which was previously diagnosed by clinical and histologic findings. The mother had no history of miscarriages or consanguinity and has one healthy son. There was no family history of other affected family members. A diagnosis of Goltz syndrome was made based on the clinical presentation and family history; a multidisciplinary approach was used to treat the patient. Goltz syndrome, also known as focal dermal hypoplasia, is a rare X-linked dominant genodermatosis that is characterized by a large array of defects involving the skin, eyes, teeth, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous system. Extensive facial clefting occurring in patients with Goltz syndrome has only been rarely reported. This case may also represent genetic anticipation in which disease symptoms become progressively more severe in successive generations, an entity that, to our knowledge, has not been reported in Goltz syndrome.
Treatment of diaper dermatitis: Review of the treatment options Janice Miller, MD, Barrier Therapeutics, Inc., Princeton, NJ, United States; Vale´rie Vroome, PharmD, Barrier Therapeutics, Geel, Belgium For the treatment of mild to moderate diaper dermatitis (DD), which is the most frequent disease in children between 0 and 2 years of age, no controlled studies have been published. Hydrophobic formulations containing dimethicone or petrolatum and talc or zinc oxide have been used successfully for many years, but have never been scientifically powered. For the moderate to severe forms of DD, which are often complicated by Candida spp. (DDCC), the use of antifungal therapy is recommended and several studies have been published. In a double-blind study, 37 patients with confirmed DDCC have received either nystatin cream or nystatin cream and oral suspension 4 times a day for 10 days. At day 10 there was no statistical difference between the 2 groups. Approximately 50% of the patients needed a 3week treatment for complete cure. A comparative study included 20 patients who received mupirocin PEG base and nystatin cream 3 times a day for 7 days. Although the Candida infection was eradicated in respectively 2.6 and 2.8 days, only 3/10 patients treated with nystatin cream were completely cured at day 7, while the mean time to heal exudative or excoriated wounds was 4.7 days for the mupirocin group. In an article by Gibbs et al, different studies were combined. Of the 320 patients included with DD complicated by Candida spp., 220 received 1% tioconazole cream, 43 a comparative antifungal cream and 57 the vehicle. The creams were applied BID for 28 days. The cure rates of the different antifungal creams were comparable and the respective cure rate was 14.9, 19.2, and 11.7 days. In an open-label study 44 patients with DDCC applied 0.77% ciclopirox olamine suspension BID for 7 days. Caregivers could apply petrolatum at every diaper change. Ciclopirox provided a significant reduction in rate of mycological cure and reduction of severity score versus baseline. In 3 studies, the effect of 0.25% miconazole nitrate 1 zinc oxide ointment was evaluated. The product was applied at every diaper change for 7 days. In the 2 first studies the DD severity score was significantly reduced from day 3 onwards in CCID. In the latter study, at day 14, which is 1 week after cessation of the treatment, 43% of the patients had no signs and symptoms of DD. There are no controlled studies of irritant DD. For DDCC, mycologic cure was attained with all antifungals evaluated. However, the time to complete cure (ie, clearance of signs and symptoms) improves when the vehicle is hydrophobic, such as miconazole nitrate 0.25% zinc oxide oitment. This product is the only FDA-approved for DDCC in immunocompetent infants and children 4 weeks and older.
Commercial support: None identified.
100% supported by Barrier Therapeutics.
P2307
AB108
J AM ACAD DERMATOL
FEBRUARY 2008
P2308
Brachyonychia and brachydactyly as the presenting feature of Hadjue Cheney syndrome Tracy Thomas, MD, University of New Mexico, Albuquerque, NM, United States; Carol Clericuzio, MD, University of New Mexico, Albuquerque, NM, United States; Barrett Zlotoff, MD, University of New Mexico, Albuquerque, NM, United States
Congenital basaloid follicular hamartoma mimicking congenital linear morphea of the face Ronald Tee, MD, Mayo Clinic Scottsdale, Scottsdale, AZ, United States; David Carpentieri, MD, Phoenix Children’s Hospital, Phoenix, AZ, United States; Ronald Hansen, MD, Phoenix Children’s Hospital, Phoenix, AZ, United States; Xuan Nguyen, MD, Phoenix Children’s Hospital, Phoenix, AZ, United States
We are presenting a case of a 4-year-old female who presented with severe brachyonychia and bulbous, blunt, racquet-like fingertips with a constriction band at the beginning of the distal interphalangeal joint, and brachydactyly of all 10 upper extremity digits. This digital abnormality had been present since birth with some difficulties picking up small objects. The lower extremity digits were not affected. Further physical examination revealed a small stature (fifth percentile in height) and weight which was three standard deviations below the mean, a head circumference which was four standard deviations below the mean, micrognathia, inferiorly displaced cheeks, increased spacing between teeth, and thin enamel. Cognition was completely intact. Radiographs of the left hand revealed a complete absence of the second finger distal tuft, partial absence of the first, third, and fourth tufts, as well as fragmentation of the fifth tuft. Distal phalangeal epiphyses were noted to be present. HadjueCheney syndrome is a rare, autosomal dominant disorder. However, the genetic mutation and molecular defect are unkown. Physical findings include progressive acroosteolysis of the distal phalanges with associated digital abnormalities including brachyonychia in 84% of patients, craniofacial abnormalities, including micrognathia, mid-facial flattening, dental anomalies with predominantly thin enamel, short stature generally in the fifth percentile, cystic kidneys, often with hypertension, hirsutism in 16% of patients, and dry, coarse skin in 7% of patients. Generally, the acroosteolysis and the accompanying brachyonychia and brachydactyly develop and progress in adolescence and early adulthood. Our patient initially presented at age 4 with acroosteolysis, but had a history of digital anomalies including brachyonychia since birth.
Basaloid follicular hamartoma is a rare hamartoma of the hair follicles characterized by anastomosing strands and cords of basaloid or squamoid cells with intervening fibrous stroma. Clinically, it has a diverse presentation that can be sporadic or inherited and may vary from solitary to linear/unilateral to generalized forms with or without syndromic associations. The generalized forms, in particular, have been associated with alopecia, myasthenia gravis, systemic lupus erythematosus and cystic fibrosis. We report a case of a 2-month-old infant girl who presented with left eyelid ptosis, congenital glaucoma, craniofacial anomalies, and a distinct atrophic and sclerotic linear streak down the midline of her forehead extending to the left temple. Additional cutaneous findings included atrophic, waxy, skin-colored papules clustered into larger plaques involving the left medial canthus, upper eyelid, and cheek. The preauricular cheek and neck also exhibited confetti-like, lacy white soft macules coalescing into linear patches. Clinically, the lesions were strongly suggestive for congenital linear morphea. Biopsies, however, revealed small basaloid follicular structures in the papillary dermis surrounded by fibrotic stroma and mucin consistent with basaloid follicular hamartoma. This case represents the rare congenital unilateral linear variant of this hamartoma, and it highlights how this entity may be virtually indistinguishable in presentation from congenital linear morphea. Additionally, it also identifies new associations with basaloid follicular hamartomas and raises the question of its relationship to syndromes like CurryeJones syndrome (streaky morphea-like skin lesions, craniofacial anomalies, polysyndactyly, and defects of the gastrointestinal tract). Commercial support: None identified.
Commercial support: None identified.
P2309 Extensive structural anomalies and genetic anticipation in a patient with Goltz syndrome Jennifer A. Cafardi, MD, University of Alabama at Birmingham, Birmingham, AL, United States; Allison Swanson, MD, University of Alabama at Birmingham, Birmingham, AL, United States; Amy Theos, MD, University of Alabama at Birmingham, Birmingham, AL, United States A 1-day-old girl presented with asymmetric, linear, erythematous erosions distributed along Blaschko’s lines on the upper and lower extremities, as well as the occipital scalp. Other cutaneous findings included cribiform scarring on the central face, hypoplastic fingernails, protruding ears, and a preauricular tag on the right side. Craniofacial exam revealed extensive facial clefting extending to the right orbit with associated right anophthalmos and left nanophthalmos. Other structural anomalies included a small mandible, syndactyly of the left foot, widely spaced fingers, and arachnodactyly. Urogenital examination revealed a large hooded clitoris with the anus and vagina in close proximity. She also had a large omphalocele with visible intestines. An echocardiogram revealed a moderate ventricular septal defect, patent foramen ovale, and left to right shunting. A renal ultrasound showed grade II hydronephrosis on the right side. MRI of the head showed a small pituitary gland and a focal abnormality in the right temporal lobe representing hemorrhage. The patient’s prenatal history was remarkable for known intrauterine growth retardation and numerous structural anomalies visualized on ultrasound. She was born at 36 weeks gestation to a mother with known Goltz syndrome, which was previously diagnosed by clinical and histologic findings. The mother had no history of miscarriages or consanguinity and has one healthy son. There was no family history of other affected family members. A diagnosis of Goltz syndrome was made based on the clinical presentation and family history; a multidisciplinary approach was used to treat the patient. Goltz syndrome, also known as focal dermal hypoplasia, is a rare X-linked dominant genodermatosis that is characterized by a large array of defects involving the skin, eyes, teeth, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous system. Extensive facial clefting occurring in patients with Goltz syndrome has only been rarely reported. This case may also represent genetic anticipation in which disease symptoms become progressively more severe in successive generations, an entity that, to our knowledge, has not been reported in Goltz syndrome.
Treatment of diaper dermatitis: Review of the treatment options Janice Miller, MD, Barrier Therapeutics, Inc., Princeton, NJ, United States; Vale´rie Vroome, PharmD, Barrier Therapeutics, Geel, Belgium For the treatment of mild to moderate diaper dermatitis (DD), which is the most frequent disease in children between 0 and 2 years of age, no controlled studies have been published. Hydrophobic formulations containing dimethicone or petrolatum and talc or zinc oxide have been used successfully for many years, but have never been scientifically powered. For the moderate to severe forms of DD, which are often complicated by Candida spp. (DDCC), the use of antifungal therapy is recommended and several studies have been published. In a double-blind study, 37 patients with confirmed DDCC have received either nystatin cream or nystatin cream and oral suspension 4 times a day for 10 days. At day 10 there was no statistical difference between the 2 groups. Approximately 50% of the patients needed a 3week treatment for complete cure. A comparative study included 20 patients who received mupirocin PEG base and nystatin cream 3 times a day for 7 days. Although the Candida infection was eradicated in respectively 2.6 and 2.8 days, only 3/10 patients treated with nystatin cream were completely cured at day 7, while the mean time to heal exudative or excoriated wounds was 4.7 days for the mupirocin group. In an article by Gibbs et al, different studies were combined. Of the 320 patients included with DD complicated by Candida spp., 220 received 1% tioconazole cream, 43 a comparative antifungal cream and 57 the vehicle. The creams were applied BID for 28 days. The cure rates of the different antifungal creams were comparable and the respective cure rate was 14.9, 19.2, and 11.7 days. In an open-label study 44 patients with DDCC applied 0.77% ciclopirox olamine suspension BID for 7 days. Caregivers could apply petrolatum at every diaper change. Ciclopirox provided a significant reduction in rate of mycological cure and reduction of severity score versus baseline. In 3 studies, the effect of 0.25% miconazole nitrate 1 zinc oxide ointment was evaluated. The product was applied at every diaper change for 7 days. In the 2 first studies the DD severity score was significantly reduced from day 3 onwards in CCID. In the latter study, at day 14, which is 1 week after cessation of the treatment, 43% of the patients had no signs and symptoms of DD. There are no controlled studies of irritant DD. For DDCC, mycologic cure was attained with all antifungals evaluated. However, the time to complete cure (ie, clearance of signs and symptoms) improves when the vehicle is hydrophobic, such as miconazole nitrate 0.25% zinc oxide oitment. This product is the only FDA-approved for DDCC in immunocompetent infants and children 4 weeks and older.
Commercial support: None identified.
100% supported by Barrier Therapeutics.
P2307
AB108
J AM ACAD DERMATOL
FEBRUARY 2008